Varaico: Literature-Extracted Genetic Variants

Gene:GAD1
Variant:p.R62C
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GAD1

NM_000817.3:p.R62C

Associated Papers

CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.

Guo J et al.

Human Genomics, 2025

40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1

VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants.

Ip E et al.

Genomics, Proteomics & Bioinformatics, 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."