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
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
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
Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Baertling F et al.
Metabolic Brain Disease, 2017
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
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