Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.S255fs
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G6PC3

NM_138387.4:p.S255fs

Associated Papers

Testicular failure in a patient with G6PC3 deficiency.

Yeshayahu Y et al.

Pediatric Research, 2014

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

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

Boztug K et al.

The Journal of Pediatrics, 2012

A case of syndromic neutropenia and mutation in G6PC3.

Gatti S et al.

Journal of Pediatric Hematology/oncology, 2011

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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."