Varaico: Literature-Extracted Genetic Variants

Gene:VARS2
Variant:p.L852_E853Splc
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VARS2

NM_001167734.2:p.L852_E853Splc

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

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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."