Varaico: Literature-Extracted Genetic Variants

Gene:PYGL
Variant:p.F258Splc
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PYGL

NM_002863.5:p.F258Splc

Associated Papers

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.

Yu J et al.

Clinical Genetics, 2024

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.

Wang Y et al.

Genes, 2023

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

Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.

Lu SQ et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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."