Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.I70delFs
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G6PC3

NM_138387.4:p.I70delFs

Associated Papers

Founder Variants in the Mexican Population: A Systematic Review.

Harari-Arakindji S et al.

Archives of Medical Research, 2025

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.

Godinez-Zamora GF et al.

Frontiers in Immunology, 2025

41190063 (PubMed )
Supplement: Table2.xlsx › Sheet1

Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

Zhen X et al.

Journal of Clinical Immunology, 2024

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Zhen X et al.

Research Square, 2024

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Zhen X et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

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."