Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.G233S
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PYGL

NM_002863.5:p.G233S

Associated Papers

[Clinical features and genetic analysis of a child with glycogen storage disease type VI].

Su L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.

Luo X et al.

Human Mutation, 2022

Successful pregnancy in a woman with glycogen storage disease type 6.

Grünert SC et al.

Molecular Genetics and Metabolism Reports, 2021

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F et al.

Molecular Genetics & Genomic Medicine, 2019

31508908 (PubMed )
Supplement: MGG3-7-e877-s001.xlsx › Plan1
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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."