Associated Papers
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
Poquérusse J et al.
Jimd Reports, 2023
Expanding the electro-clinical phenotype of CARS2associated neuroregression.
Kapoor D et al.
Epilepsy & Behavior Reports, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin CR et al.
Journal of Medical Genetics, 2015
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