Associated Papers
Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.
Marquez J et al.
Journal of Inherited Metabolic Disease, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.
Baker EK et al.
Frontiers in Genetics, 2022
A novel VARS2 gene variant in a patient with epileptic encephalopathy.
Ruzman L et al.
Upsala Journal of Medical Sciences, 2019
A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family.
Ma K et al.
Bmc Medical Genetics, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
Bruni F et al.
Human Mutation, 2018
Select a paper to view details