Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
G6PC3 promotes genome maintenance and is a candidate mammary tumor suppressor.
Li X et al.
Jci Insight, 2025
40261702 (PubMed )
Supplement: jciinsight-10-186747-s239.pdf
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
Zhen X et al.
Journal of Clinical Immunology, 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 rare case of syndromic severe congenital neutropenia: JAGN1 mutation.
Çipe FE et al.
The Turkish Journal of Pediatrics, 2020
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications.
Mistry A et al.
Frontiers in Immunology, 2017
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
G6PC3 mutations cause non-syndromic severe congenital neutropenia.
Banka S et al.
Molecular Genetics and Metabolism, 2013
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.
Smith BN et al.
British Journal of Haematology, 2012
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Hayee B et al.
Glycobiology, 2011
HAX1 mutation in an infant with severe congenital neutropenia.
Eghbali A et al.
The Turkish Journal of Pediatrics, 0
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