Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.P2761R
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VPS13A

NM_001018037.2:p.P2761R

Associated Papers

Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).

Chaudhari S et al.

Molecular Genetics and Genomics : Mgg, 2023

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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."