Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.K429_N430Splc
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G6PD

NM_001360016.2:p.K429_N430Splc

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

Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants.

Arunachalam AK et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2020

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

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

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J et al.

Nucleic Acids Research, 2005

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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."