Varaico: Literature-Extracted Genetic Variants

Gene:VARS2
Variant:p.D379N
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VARS2

NM_020442.6:p.D379N

Associated Papers

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

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

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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."