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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:G6PC1

Variant:p.V348A

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G6PC1

NM_000151.4:p.V348A

hg38:chr17:42911395 T>C

Associated Papers

Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.

Trioche P et al.

Human Mutation, 2000

11058903 (PubMed )

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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."