Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.G256del1
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G6PC3

NM_138387.4:p.G256del1

Associated Papers

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

Altered Functions of Neutrophils in Two Chinese Patients With Severe Congenital Neutropenia Type 4 Caused by G6PC3 Mutations.

Dai R et al.

Frontiers in Immunology, 2021

Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia.

Gong RL et al.

Frontiers in Pediatrics, 2018

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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."