Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.G382E
Back to variants list

GYS2

NM_021957.4:p.G382E

Associated Papers

Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Ersoy M et al.

Genes, 2021

Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a.

Iijima H et al.

Molecular Genetics and Metabolism Reports, 2021

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

The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency.

Kasapkara ÇS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."