Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.Y48*
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G6PC3

NM_138387.4:p.Y48*

Associated Papers

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Velez-Tirado N et al.

Scandinavian Journal of Immunology, 2022

Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.

López-Rodríguez L et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2022

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.

Notarangelo LD et al.

Italian Journal of Pediatrics, 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

A syndrome with congenital neutropenia and mutations in G6PC3.

Boztug K et al.

The New England Journal of Medicine, 2009

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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."