Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.G691R
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PYGL

NM_002863.5:p.G691R

Associated Papers

Clinical and genetic spectrum of GSD type 6 in Korea.

Hahn JW et al.

Orphanet Journal of Rare Diseases, 2023

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

Liver histology in children with glycogen storage disorders type VI and IX.

Degrassi I et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2021

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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."