Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.V153_E154insFs
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PC

NM_001040716.2:p.V153_E154insFs

Associated Papers

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

Lei KJ et al.

The Journal of Clinical Investigation, 1995

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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."