Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.W77Splc
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G6PC1

NM_000151.4:p.W77Splc

Associated Papers

Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.

Liang Y et al.

Molecular Genetics & Genomic Medicine, 2020

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

Santer R et al.

Human Mutation, 2000

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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."