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1. Full Text Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
by Hamdan, Fadi F and Gauthier, Julie and Araki, Yoichi and Lin, Da-Ting and Yoshizawa, Yuhki and Higashi, Kyohei and Park, A-Reum and Spiegelman, Dan and Dobrzeniecka, Sylvia and Piton, Amélie and Tomitori, Hideyuki and Daoud, Hussein and Massicotte, Christine and Henrion, Edouard and Diallo, Ousmane and Shekarabi, Masoud and Marineau, Claude and Shevell, Michael and Maranda, Bruno and Mitchell, Grant and Nadeau, Amélie and D'Anjou, Guy and Vanasse, Michel and Srour, Myriam and Lafrenière, Ronald G and Drapeau, Pierre and Lacaille, Jean Claude and Kim, Eunjoon and Lee, Jae-Ran and Igarashi, Kazuei and Huganir, Richard L and Rouleau, Guy A and Michaud, Jacques L and S2D Grp and S2D Group
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 3, pp. 306 - 316
Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an... 
AMPA RECEPTORS | MENTAL-RETARDATION | NMDA RECEPTORS | SWISS-MODEL WORKSPACE | SCAFFOLDING PROTEIN SHANK3 | CULTURED NEURONS | GENETICS & HEREDITY | COGNITIVE IMPAIRMENT | KINESIN MOTOR KIF1A | CELL-DEATH | PLASTICITY | Protein Binding - genetics | Calcium Channels - metabolism | Cytoskeletal Proteins - genetics | Glutamic Acid - genetics | Humans | Male | Mutation, Missense - genetics | Intellectual Disability - genetics | Receptors, N-Methyl-D-Aspartate - genetics | Base Sequence | RNA Splicing - genetics | HEK293 Cells | Kinesin - genetics | Cytoskeletal Proteins - metabolism | Female | Membrane Proteins - metabolism | Neuropeptides - genetics | Calcium Channels - genetics | Receptors, AMPA - metabolism | Membrane Proteins - genetics | Rats | Neuropeptides - metabolism | Mutation - genetics | Subcellular Fractions - metabolism | Syndrome | Protein Transport | Phenotype | Animals | Amino Acid Substitution - genetics | Glutamate | Proteins | Cell culture | Learning disabilities | Mutation | Pathogenesis | Genes | Index Medicus
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2. Full Text Dual mechanisms regulating glutamate decarboxylases and accumulation of gamma-aminobutyric acid in tea (Camellia sinensis) leaves exposed to multiple stresses
by Mei, Xin and Chen, Yiyong and Zhang, Lingyun and Fu, Xiumin and Wei, Qing and Grierson, Don and Zhou, Ying and Huang, Yahui and Dong, Fang and Yang, Ziyin
Scientific Reports, ISSN 2045-2322, 03/2016, Volume 6, Issue 1, pp. 23685 - 23685
gamma-Aminobutyric acid (GABA) is one of the major inhibitory neurotransmitters in the central nervous system. It has multiple positive effects on mammalian... 
GABA SHUNT | CELLS | METABOLISM | CALMODULIN-BINDING DOMAIN | STRUCTURAL BASIS | MULTIDISCIPLINARY SCIENCES | PLANTS | ROOTS | ARABIDOPSIS | BLOOD-PRESSURE | Camellia sinensis - metabolism | gamma-Aminobutyric Acid - metabolism | Stress, Mechanical | Camellia sinensis - genetics | Amino Acids - genetics | RNA, Messenger - metabolism | Oxygen - metabolism | Amino Acids - metabolism | Isoenzymes - metabolism | Gene Expression Regulation, Plant | Plant Proteins - metabolism | Plant Leaves - enzymology | Recombinant Proteins - metabolism | Isoenzymes - genetics | RNA, Messenger - genetics | Glutamate Decarboxylase - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Camellia sinensis - enzymology | Plant Proteins - genetics | Plant Leaves - genetics | Plant Leaves - metabolism | Escherichia coli - genetics | Glutamate Decarboxylase - metabolism | Glutamic Acid - metabolism | Mutation | Tea | Leaves | Glutamic acid | Enzymes | γ-Aminobutyric acid | Neurotransmitters | Enzymatic activity | Calcium-binding protein | Central nervous system | Glutamate decarboxylase | mRNA | Calmodulin | Index Medicus
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3. Full Text The Rice R2R3-MYB Transcription Factor OsMYB55 Is Involved in the Tolerance to High Temperature and Modulates Amino Acid Metabolism
by El-kereamy, Ashraf and Bi, Yong-Mei and Ranathunge, Kosala and Beatty, Perrin H and Good, Allen G and Rothstein, Steven J
PLoS ONE, ISSN 1932-6203, 12/2012, Volume 7, Issue 12, pp. e52030 - e52030
Temperatures higher than the optimum negatively affects plant growth and development. Tolerance to high temperature is a complex process that involves several... 
ORYZA-SATIVA L | ARABIDOPSIS-THALIANA | OXIDATIVE STRESS | ABIOTIC STRESS | MULTIDISCIPLINARY SCIENCES | GENE FAMILY | PLANTS | ENHANCED TOLERANCE | ASCORBATE PEROXIDASE | HEAT-STRESS RESPONSE | CELL-DEATH | Temperature | Transcriptional Activation - genetics | Oryza - metabolism | gamma-Aminobutyric Acid - metabolism | Glutamic Acid - genetics | Transcriptome | Phylogeny | Amino Acids - genetics | Amino Acids - metabolism | Oryza - genetics | Arginine - genetics | Gene Expression Regulation, Plant | Plant Proteins - metabolism | Stress, Physiological - physiology | gamma-Aminobutyric Acid - genetics | Promoter Regions, Genetic | Stress, Physiological - genetics | Gene Expression Profiling - methods | Transcription Factors - genetics | Heat-Shock Response - physiology | Heat-Shock Response - genetics | Transcription Factors - metabolism | Plant Proteins - genetics | Glutamic Acid - metabolism | Arginine - metabolism | Crop yields | Genes | Physiological aspects | GABA | Global warming | Glutamate | Glutamine | Rice | Glutamic acid | Transcription factors | Horticulture | Grain | Plant tolerance | Amino acids | Activation | High temperature | Polyamines | Proteins | γ-Aminobutyric acid | Arginine | Glutamine amidotransferase | Temperature effects | Transcription activation | Cell cycle | Glutamate-ammonia ligase | Crop yield | Productivity | Abiotic stress | Glutamate decarboxylase | Metabolism | Gene expression | Climate change | Heat | Plant growth | Cellular biology | Genetic engineering | Temperature tolerance | Index Medicus
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4. Full Text A nuclease that mediates cell death induced by DNA damage and poly(ADP-ribose) polymerase-1
by Wang, Yingfei and An, Ran and Umanah, George K and Park, Hyejin and Nambiar, Kalyani and Eacker, Stephen M and Kim, Bongwoo and Bao, Lei and Harraz, Maged M and Chang, Calvin and Chen, Rong and Wang, Jennifer E and Kam, Tae-In and Jeong, Jun Seop and Xie, Zhi and Neifert, Stewart and Qian, Jiang and Andrabi, Shaida A and Blackshaw, Seth and Zhu, Heng and Song, Hongjun and Ming, Guo-Li and Dawson, Valina L and Dawson, Ted M
Science, ISSN 0036-8075, 10/2016, Volume 354, Issue 6308, pp. aad6872 - aad6872
Inhibition or genetic deletion of poly(ADP-ribose) (PAR) polymerase-1 (PARP-1) is protective against toxic insults in many organ systems. The molecular... 
APOPTOSIS | MIGRATION-INHIBITORY FACTOR | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | FACTOR MIF | PARTHANATOS | CYTOKINE | ENZYMATIC-ACTIVITY | TAUTOMERASE | IDENTIFICATION | ENDONUCLEASE-G | Chromatin - metabolism | Mitochondria - enzymology | Oxidative Stress | Glutamic Acid - genetics | Humans | Apoptosis - genetics | Macrophage Migration-Inhibitory Factors - metabolism | Deoxyribonucleases - metabolism | Stroke - genetics | Cell Nucleus - enzymology | Macrophage Migration-Inhibitory Factors - genetics | Base Sequence | DNA Fragmentation | DNA Damage - genetics | Macrophage Migration-Inhibitory Factors - chemistry | Active Transport, Cell Nucleus | Intramolecular Oxidoreductases - metabolism | Nucleic Acid Conformation | Apoptosis Inducing Factor - metabolism | Deoxyribonucleases - chemistry | Amino Acid Sequence | Catalytic Domain | Intramolecular Oxidoreductases - chemistry | DNA, Single-Stranded - metabolism | Poly (ADP-Ribose) Polymerase-1 - metabolism | Apoptosis Inducing Factor - genetics | Mice, Knockout | Stroke - enzymology | Deoxyribonucleases - genetics | Animals | Intramolecular Oxidoreductases - genetics | Neurons - enzymology | Mice | HeLa Cells | Mutation | Glutamic Acid - toxicity | DNA Cleavage | Glutamic Acid - chemistry | Polymerase chain reaction | DNA damage | Cells | Index Medicus | Cell death | Deoxyribonucleic acid | Activation | Nuclease | Inhibition | Damage accumulation | Nuclei | Diseases
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5. Full Text TERT Promoter Mutations and Their Association with BRAF V600E Mutation and Aggressive Clinicopathological Characteristics of Thyroid Cancer
by Liu, Xiaoli and Qu, Shen and Liu, Rengyun and Sheng, Chunjun and Shi, Xiaoguang and Zhu, Guangwu and Murugan, Avaniyapuram Kannan and Guan, Haixia and Yu, Hongyu and Wang, Yangang and Sun, Hui and Shan, Zhongyan and Teng, Weiping and Xing, Mingzhao
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 06/2014, Volume 99, Issue 6, pp. E1130 - E1136
Context: Promoter mutations chr5:1,295,228C>T and chr5:1,295,250C>T (termed C228T and C250T, respectively) in the gene for telomerase reverse transcriptase... 
SAP1A | IODINE INTAKE | TELOMERASE | TUMORS | ENDOCRINOLOGY & METABOLISM | Adenocarcinoma, Follicular - pathology | Glutamic Acid - genetics | Humans | Middle Aged | Thyroid Neoplasms - epidemiology | Molecular Sequence Data | Adenocarcinoma, Follicular - genetics | Male | Telomerase - genetics | Base Sequence | Carcinoma - epidemiology | Adult | Female | Carcinoma - pathology | Promoter Regions, Genetic | Genetic Association Studies | Adenocarcinoma, Follicular - epidemiology | Neoplasm Invasiveness | Gene Frequency | Thyroid Neoplasms - genetics | Carcinoma, Papillary | Proto-Oncogene Proteins B-raf - genetics | Carcinoma - genetics | Valine - genetics | Aged | Mutation | Amino Acid Substitution | Cohort Studies | Thyroid Neoplasms - pathology | Index Medicus | Abridged Index Medicus | Advances in Genetics | JCEM Online
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6. Full Text Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation
by Haroche, Julien and Cohen-Aubart, Fleur and Emile, Jean-François and Arnaud, Laurent and Maksud, Philippe and Charlotte, Frédéric and Cluzel, Philippe and Drier, Aurélie and Hervier, Baptiste and Benameur, Neïla and Besnard, Sophie and Donadieu, Jean and Amoura, Zahir
Blood, ISSN 0006-4971, 02/2013, Volume 121, Issue 9, pp. 1495 - 1500
Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis. BRAF(V600E) gain-of-function mutations have been observed in 57% of... 
HEMATOLOGY | MELANOMA | Erdheim-Chester Disease - genetics | Glutamic Acid - genetics | Histiocytosis, Langerhans-Cell - genetics | Humans | Middle Aged | Male | Treatment Outcome | Drug Resistance - drug effects | Erdheim-Chester Disease - pathology | Drug Resistance - genetics | Erdheim-Chester Disease - drug therapy | Mutation, Missense - physiology | Histiocytosis, Langerhans-Cell - pathology | Sulfonamides - therapeutic use | Proto-Oncogene Proteins B-raf - genetics | Anti-Inflammatory Agents - therapeutic use | Adult | Female | Indoles - therapeutic use | Valine - genetics | Aged | Amino Acid Substitution | Histiocytosis, Langerhans-Cell - drug therapy | Index Medicus | Abridged Index Medicus
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7. Full Text Evidence for a Common Mechanism of SIRT1 Regulation by Allosteric Activators
by Basil P. Hubbard and Ana P. Gomes and Han Dai and Jun Li and April W. Case and Thomas Considine and Thomas V. Riera and Jessica E. Lee and Sook Yen E and Dudley W. Lamming and Bradley L. Pentelute and Eli R. Schuman and Linda A. Stevens and Alvin J. Y. Ling and Sean M. Armour and Shaday Michan and Huizhen Zhao and Yong Jiang and Sharon M. Sweitzer and Charles A. Blum and Jeremy S. Disch and Pui Yee Ng and Konrad T. Howitz and Anabela P. Rolo and Yoshitomo Hamuro and Joel Moss and Robert B. Perni and James L. Ellis and George P. Vlasuk and David A. Sinclair
Science, ISSN 0036-8075, 3/2013, Volume 339, Issue 6124, pp. 1216 - 1219
A molecule that treats multiple age-related diseases would have a major impact on global health and economics. The SIRT1 deacetylase has drawn attention in... 
T lymphocytes | Killing | Proteins | Dose response relationship | Antibiotics | REPORTS | Amino acids | Diabetes | Myoblasts | Cancer | Diseases | SURVIVAL | SRT1720 | RESVERATROL | DEACETYLASE ACTIVITY | ACETYLATION | MULTIDISCIPLINARY SCIENCES | MITOCHONDRIAL-FUNCTION | TRANSCRIPTION | SIRTUINS | MODULATION | SMALL-MOLECULE ACTIVATORS | Sirtuin 1 - metabolism | Allosteric Regulation | Glutamic Acid - genetics | Humans | Molecular Sequence Data | Substrate Specificity | Stilbenes - chemistry | Stilbenes - pharmacology | Sirtuin 1 - genetics | Heterocyclic Compounds, 4 or More Rings - pharmacology | Myoblasts - drug effects | Forkhead Transcription Factors - chemistry | Sirtuin 1 - chemistry | Protein Structure, Tertiary | Amino Acid Sequence | Cells, Cultured | Heterocyclic Compounds, 4 or More Rings - chemistry | Forkhead Transcription Factors - genetics | Amino Acid Motifs | Animals | Hydrophobic and Hydrophilic Interactions | Mice | Enzyme Activation | Forkhead Box Protein O3 | Myoblasts - enzymology | Amino Acid Substitution | Glutamic Acid - chemistry | Transcription factors | Properties | Genetic regulation | Allosteric proteins | Aging | Mitochondria | Hydrophobic surfaces | DNA repair | Apoptosis | Index Medicus | Drugs | Enzymes | Regulators | Control | Exploration | Activation | Substrates
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8. Full Text High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis
by Brown, Noah A and Furtado, Larissa V and Betz, Bryan L and Kiel, Mark J and Weigelin, Helmut C and Lim, Megan S and Elenitoba-Johnson, Kojo S. J
Blood, ISSN 0006-4971, 2014, Volume 124, Issue 10, pp. 1655 - 1658
Langerhans cell histiocytosis (LCH) represents a clonal proliferation of Langerhans cells. BRAF V600E mutations have been identified in approximately 50% of... 
MEK | MELANOMA | DISEASE | LUNG ADENOCARCINOMA | RESISTANCE | INHIBITOR SELUMETINIB AZD6244 | HEMATOLOGY | Genetic Predisposition to Disease | Prevalence | Gene Frequency | Glutamic Acid - genetics | Histiocytosis, Langerhans-Cell - genetics | Humans | Male | Mutation, Missense | Histiocytosis, Langerhans-Cell - epidemiology | MAP Kinase Kinase 1 - genetics | Proto-Oncogene Proteins B-raf - genetics | Female | Valine - genetics | Retrospective Studies | Amino Acid Substitution | Index Medicus | Abridged Index Medicus
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9. Full Text Formation of a Stabilized Cysteine Sulfinic Acid Is Critical for the Mitochondrial Function of the Parkinsonism Protein DJ-1
by Jeff Blackinton and Mahadevan Lakshminarasimhan and Kelly J. Thomas and Rili Ahmad and Elisa Greggio and Ashraf S. Raza and Mark R. Cookson and Mark A. Wilson and Argonne National Lab. (ANL), Argonne, IL (United States)
Journal of Biological Chemistry, ISSN 0021-9258, 03/2009, Volume 284, Issue 10, pp. 6476 - 6485
The formation of cysteine-sulfinic acid has recently become appreciated as a modification that links protein function to cellular oxidative status. Human DJ-1,... 
OXIDATION | LOCALIZATION | EVOLUTIONARY | RESOLUTION CRYSTAL-STRUCTURE | DISEASE GENE DJ-1 | BIOCHEMISTRY & MOLECULAR BIOLOGY | SUPERFAMILY | ALPHA-SYNUCLEIN | MUTATIONS | IDENTIFICATION | SACCHAROMYCES-CEREVISIAE | Oncogene Proteins - genetics | Oxidation-Reduction | Glutamic Acid - genetics | Humans | Genetic Diseases, Inborn - genetics | Oncogene Proteins - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Mitochondrial Proteins - genetics | Parkinson Disease - genetics | Cysteine - genetics | Protein Deglycase DJ-1 | Animals | Mitochondrial Proteins - metabolism | Cell Line, Tumor | Sulfinic Acids - metabolism | Cysteine - metabolism | Genetic Diseases, Inborn - metabolism | Glutamic Acid - metabolism | Mice | Parkinson Disease - metabolism | Mutation | Intracellular Signaling Peptides and Proteins - genetics | Amino Acid Substitution | Index Medicus | CELL CULTURES | GLUTAMIC ACID | VIABILITY | ORGANIC ACIDS | 08 HYDROGEN | CYSTEINE | BONDING | IN VIVO | HYDROGEN | MODIFICATIONS | THIOLS | MUTANTS | ORGANIC SULFUR COMPOUNDS | FISSION | PROTEINS | RESIDUES | Protein Structure and Folding
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10. Full Text The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans
by Di Meglio, Paola and Di Cesare, Antonella and Laggner, Ute and Chu, Chung-Ching and Napolitano, Luca and Villanova, Federica and Tosi, Isabella and Capon, Francesca and Trembath, Richard C and Peris, Ketty and Nestle, Frank O
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 2, pp. e17160 - e17160
IL-23 and Th17 cells are key players in tissue immunosurveillance and are implicated in human immune-mediated diseases. Genome-wide association studies have... 
INTESTINAL INFLAMMATION | GROWTH-FACTOR-BETA | INFLAMMATORY-BOWEL-DISEASE | AUTOIMMUNE INFLAMMATION | CROHNS-DISEASE | BIOLOGY | INTERLEUKIN-23 | IL-23 | PSORIASIS-VULGARIS | GENOME-WIDE ASSOCIATION | T-HELPER-CELLS | Immune System Diseases - genetics | Glutamic Acid - genetics | Humans | Middle Aged | Polymorphism, Single Nucleotide - physiology | Male | Young Adult | Cell Differentiation - genetics | Lymphocyte Activation - genetics | Th17 Cells - drug effects | Immunity, Cellular - drug effects | Interleukin-23 - metabolism | Arginine - genetics | Cytoprotection - drug effects | Adult | Female | Receptors, Interleukin - physiology | Th17 Cells - physiology | Immunity, Cellular - genetics | Cells, Cultured | Receptors, Interleukin - genetics | Down-Regulation - genetics | Cell Differentiation - immunology | Mutation, Missense - physiology | Amino Acid Substitution - physiology | Interleukin-23 - pharmacology | Down-Regulation - immunology | Lymphocyte Activation - drug effects | Th17 Cells - immunology | Amino Acid Substitution - genetics | Cytoprotection - genetics | Aged | Medical research | Psoriasis | Analysis | Genes | Medicine, Experimental | Disease susceptibility | Genomes | Research | Cell differentiation | Flow cytometry | Phosphorylation | Biomedical research | Differentiation (biology) | Helper cells | Interleukin 23 | Lymphocytes T | Ethics | Immunology | Lymphocytes | Rodents | Genetics | Ankylosing spondylitis | Cytokines | Dermatology | Stat3 protein | Immunosurveillance | Inflammation | Crohn's disease | Functional analysis | Gene expression | Crohns disease | Carriers | Spondylitis | Alleles | Ligands | Index Medicus
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11. Full Text Common variants conferring risk of schizophrenia: A pathway analysis of GWAS data
by Jia, Peilin and Wang, Lily and Meltzer, Herbert Y and Zhao, Zhongming
Schizophrenia Research, ISSN 0920-9964, 2010, Volume 122, Issue 1, pp. 38 - 42
Abstract Unlike the typical analysis of single markers in genome-wide association studies (GWAS), we incorporated Gene Set Enrichment Analysis (GSEA) and... 
Psychiatry | Schizophrenia | Gene set enrichment analysis | Candidate gene | GWAS | Pathway | PSYCHIATRY | ASSOCIATION | Genetic Predisposition to Disease | Genome-Wide Association Study | Schizophrenia - genetics | Glutamic Acid - genetics | Humans | Genetic Variation - genetics | Glutamic Acid - metabolism | Signal Transduction - genetics | Genetic research | Glutamate | Index Medicus | pathway | gene set enrichment analysis | candidate gene
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12. Full Text BRAF V600E mutation and Its Association with Clinicopathological Features of Papillary Thyroid Cancer: A Meta-Analysis
by Li, Carol and Lee, Kathleen C and Schneider, Eric B and Zeiger, Martha A
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 12/2012, Volume 97, Issue 12, pp. 4559 - 4570
Background: There is conflicting literature regarding the association of the BRAF V600E mutation and aggressive clinicopathological features of papillary... 
ASPIRATION BIOPSY SPECIMENS | LYMPH-NODE METASTASIS | BRAF(V600E) MUTATION | HIGH-RISK | ENDOCRINOLOGY & METABOLISM | GENE MUTATION | RECURRENCE | HIGH PREVALENCE | CARCINOMA | EXPRESSION | TALL-CELL VARIANT | Genetic Predisposition to Disease | Age Factors | Genetic Association Studies | Glutamic Acid - genetics | Humans | Thyroid Neoplasms - epidemiology | Male | Lymphatic Metastasis | Sex Characteristics | Tumor Burden | Thyroid Cancer, Papillary | Thyroid Neoplasms - genetics | Mutation, Missense - physiology | Amino Acid Substitution - physiology | Carcinoma, Papillary | Proto-Oncogene Proteins B-raf - genetics | Carcinoma - epidemiology | Amino Acid Substitution - genetics | Carcinoma - genetics | Female | Valine - genetics | Carcinoma - pathology | Thyroid Neoplasms - pathology | Index Medicus | Abridged Index Medicus | 12 | Endocrine Care | 5 | 16
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