Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.W77Splc
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G6PC1

NM_000151.4:p.W77Splc

Associated Papers

Recent development and gene therapy for glycogen storage disease type Ia.

Chou JY et al.

Liver Research (beijing, China), 2017

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Tang R et al.

Advances in Bioinformatics, 2016

27313609 (PubMed )
Supplement: 5614058.f1.pdf

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Chou JY et al.

Human Mutation, 2008

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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."