Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.K72fs
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G6PC3

NM_138387.4:p.K72fs

Associated Papers

Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.

Jeong D et al.

Scientific Reports, 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

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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."