Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.I154T
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G6PC1

NM_000151.4:p.I154T

Associated Papers

Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.

Lin SR et al.

Molecular Genetics and Metabolism, 2015

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.

Banka S et al.

Orphanet Journal of Rare Diseases, 2013

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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."