Associated Papers
Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.
Piai CB et al.
American Journal of Medical Genetics. Part A, 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
Integrative bioinformatics approach for identifying key genes and potential therapeutic targets in the concurrent manifestation of hypertrophic cardiomyopathy and pulmonary hypertension.
Zheng X et al.
Journal of Thoracic Disease, 2024
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
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
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