Varaico: Literature-Extracted Genetic Variants

Gene:VARS2
Variant:p.M452V
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VARS2

NM_001167734.2:p.M452V

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 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."