Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.E518A
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GYS2

NM_021957.4:p.E518A

Associated Papers

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

Bauer R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40832409 (PubMed )
Supplement: media-1.xlsx › S4_-_Variants_Identified

A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

Arko JJ et al.

The Journal of International Medical Research, 2020

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.

Kamenets EA et al.

Jimd Reports, 2020

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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."