Associated Papers
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Ratnaike TE et al.
European Journal of Human Genetics : Ejhg, 2025
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
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Kušíková K et al.
Frontiers in Pediatrics, 2021
A novel VARS2 gene variant in a patient with epileptic encephalopathy.
Ruzman L et al.
Upsala Journal of Medical Sciences, 2019
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
Begliuomini C et al.
Bmc Medical Genetics, 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
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.
Pereira S et al.
Jimd Reports, 2018
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
Alsemari A et al.
Human Genomics, 2017
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Diodato D et al.
Human Mutation, 2014
Select a paper to view details