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Journal Article
Journal Article
eLife, ISSN 2050-084X, 2013, Volume 2, pp. e00824 - e00824
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 3, pp. 308 - 314
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 99 - 104
Journal Article
Molecular Medicine Reports, ISSN 1791-2997, 12/2018, Volume 18, Issue 6, pp. 5016 - 5022
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 04/2019, Volume 9, Issue 1, pp. 5628 - 11
Retinitis pigmentosa (RP) is a common phenotype in multiple inherited retinal dystrophies (IRD). Disease gene identification can assist the clinical diagnosis... 
LONG ISOFORM | HEARING IMPAIRMENT | PROTEIN | GENE | MULTIDISCIPLINARY SCIENCES | SYNDROME TYPE-II | DEAFNESS | PREVALENCE | USH2A protein | Phenotypes | Missense mutation | Retinitis pigmentosa | Retina | Retinitis | Diagnosis | Mutation | Patients
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e47366 - e47366
Gbx2 encodes a DNA-binding transcription factor that plays pivotal roles during embryogenesis. Gain-and loss-of-function studies in several vertebrate species... 
TRANSCRIPTION FACTOR-BINDING | INNER-EAR | INTRON ENHANCER | MID/HINDBRAIN ORGANIZER | MULTIDISCIPLINARY SCIENCES | TATA BOX | IN-VITRO TRANSCRIPTION | ZEBRAFISH GBX1 | HOMEOBOX GENE | ISTHMIC ORGANIZER | CREST CELL-MIGRATION | Amino Acid Sequence | Promoter Regions, Genetic | Homeodomain Proteins - metabolism | Humans | Transcriptional Activation | Computational Biology | Molecular Sequence Data | Male | Homeodomain Proteins - chemistry | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | Sequence Alignment | Animals | Transfection | Usher Syndromes - genetics | Gene Expression Regulation, Developmental | Base Sequence | Cell Line, Tumor | Mice | Peptide Elongation Factor 1 - genetics | Receptors, Immunologic - genetics | Peptide Elongation Factor 1 - metabolism | Receptors, Immunologic - metabolism | Embryonic development | Chromatin | Genetic aspects | Genetic transcription | Prostate cancer | Spinal cord | USH2A protein | Transcription factors | Immunoprecipitation | Genes | Nervous system | Biochemistry | Regulatory sequences | Inner ear | Proteins | Embryogenesis | Rodents | Life sciences | Informatics | Elongation | Deoxyribonucleic acid--DNA | Introns | Gene expression | Embryos | Neural crest | Embryonic growth stage | Computer science | Cellular biology | Hindbrain | Prostate | Cell migration | Functional groups | Cancer | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article