Varaico: Literature-Extracted Genetic Variants

Gene:GYS2
Variant:p.A339P
Back to variants list

GYS2

NM_021957.4:p.A339P

Associated Papers

Three successful pregnancies in a patient with glycogen storage disease type 0.

Grünert SC et al.

Jimd 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

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

Kamenets EA et al.

Jimd Reports, 2020

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a.

Holsten T et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2018

A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.

Watanabe I et al.

Clinical Pharmacology and Therapeutics, 2003

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Orho M et al.

The Journal of Clinical Investigation, 1998

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."