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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:G6PC1

Variant:p.V232A

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G6PC1

NM_000151.4:p.V232A

hg38:chr17:42911047 T>C

Associated Papers

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Veiga-da-Cunha M et al.

European Journal of Human Genetics : Ejhg, 1999

10482962 (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."