Varaico: Literature-Extracted Genetic Variants

Gene:VARS1
Variant:p.A692P
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VARS1

NM_006295.3:p.A692P

Associated Papers

Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.

Aynekin B et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2026

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

Friedman J et al.

Nature Communications, 2019

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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."