Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.Y47*
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G6PC3

NM_138387.4:p.Y47*

Associated Papers

Empagliflozin restores neutropenia and neutrophil dysfunction in a young patient with severe congenital neutropenia type 4.

Lédeczi Z et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

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

Lentiviral gene therapy and vitamin B3 treatment enable granulocytic differentiation of G6PC3-deficient induced pluripotent stem cells.

Hoffmann D et al.

Gene Therapy, 2020

A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.

Kaymak Cihan M et al.

Journal of Pediatric Hematology/oncology, 2016

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."