Varaico: Literature-Extracted Genetic Variants

Gene:VARS2
Variant:p.R497H
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VARS2

NM_001167734.2:p.R497H

Associated Papers

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

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

Baertling F et al.

Metabolic Brain Disease, 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

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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."