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Journal of Biotechnology, ISSN 0168-1656, 09/2014, Volume 185, pp. S15 - S15
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 831 - 845
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid... 
de novo variant | optic atrophy | neuropathy | CNV | cardiomyopathy | whole-exome sequencing | ATAD3A | dominant negative | mitochondrial dynamics | LOSS-OF-FUNCTION | DROSOPHILA-MELANOGASTER | GENOMIC DISORDERS | DOMAIN-CONTAINING 3A | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | TRANSMISSION GENETICS | MOLECULAR FINDINGS | OPTIC ATROPHY | CPG DINUCLEOTIDES | COPY-NUMBER VARIATION | Neurons - pathology | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Mitochondrial Proteins - genetics | Nervous System Diseases - genetics | Drosophila melanogaster - genetics | Muscles - pathology | Young Adult | Cardiomyopathies - genetics | Fibroblasts | Adult | Female | Nervous System Diseases - metabolism | Child | Infant, Newborn | Nervous System Diseases - pathology | Optic Atrophy - genetics | ATPases Associated with Diverse Cellular Activities | Muscle Hypotonia - genetics | Membrane Proteins - genetics | DNA Copy Number Variations - genetics | Mitochondria - metabolism | Mitochondria - pathology | Syndrome | Homozygote | Phenotype | Animals | Axons - pathology | Alleles | Polymorphism, Single Nucleotide - genetics | Adenosine Triphosphatases - genetics | Mutation | Allelomorphism | Nervous system diseases | Genetic aspects | Genetic variation | Health aspects | Adenosine triphosphatase | Proteins | Genotype & phenotype | Genetics | Mitochondria | Membranes | Neurological disorders | Index Medicus
Journal Article
Epilepsia, ISSN 0013-9580, 02/2016, Volume 57, Issue 2, pp. 335 - 335
Journal Article
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2016, Volume 44, Issue 20, pp. e154 - e154
Copy Number Variants (CNVs) are structural rearrangements contributing to phenotypic variation that have been proved to be associated with many disease states.... 
VARIATION MAP | IDENTIFICATION | ABERRATIONS | GENETICS | CANCER | BIOCHEMISTRY & MOLECULAR BIOLOGY | Exome | Computational Biology - methods | Reproducibility of Results | Algorithms | Humans | High-Throughput Nucleotide Sequencing | Software | Genomics - methods | Web Browser | DNA Copy Number Variations | Index Medicus | Methods Online
Journal Article
Bioinformatics, ISSN 1367-4803, 2/2012, Volume 28, Issue 4, pp. 470 - 478
Journal Article
Journal Article
British Journal of Haematology, ISSN 0007-1048, 10/2018, Volume 183, Issue 2, pp. 276 - 288
The inherited thrombocytopenias ( IT ) are a heterogeneous group of diseases resulting from mutations in more than 30 different genes. Among them, ACTN 1... 
ACTN | mutations | gene | thrombocytopenia | related thrombocytopenia | macrocytosis | ACTN1 gene | ACTN1-related thrombocytopenia | DOMAIN | INHERITED THROMBOCYTOPENIAS | CONGENITAL MACROTHROMBOCYTOPENIA | FAMILIES | DISORDERS | HEMATOLOGY | Thrombocytopenia | Genetic aspects | Clinical aspects | Actinin | Benign | Isoforms | Muscles | Heredity | Mutation | Platelets | Bleeding | Index Medicus
Journal Article