Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.I187_S188del1
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G6PD

NM_001360016.2:p.I187_S188del1

Associated Papers

Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.

Geck RC et al.

American Journal of Human Genetics, 2023

36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants

Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia.

Rizo-delaTorre LDC et al.

Annals of Human Genetics, 2022

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population.

Gao J et al.

Human Heredity, 2020

G6PD deficiency in Latin America: systematic review on prevalence and variants.

Monteiro WM et al.

Memorias Do Instituto Oswaldo Cruz, 2014

Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations.

Minucci A et al.

Blood Cells, Molecules & Diseases, 2012

G6PD deficiency: the genotype-phenotype association.

Mason PJ et al.

Blood Reviews, 2007

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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."