Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.E65A
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G6PC3

NM_138387.4:p.E65A

Associated Papers

Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency.

Yildirmak ZY et al.

Journal of Pediatric Hematology/oncology, 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

Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death

Olcay L et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 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."