Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.T145S
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G6PD

NM_001360016.2:p.T145S

Associated Papers

Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.

Powell NR et al.

Genetics, 2024

Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.

Powell NR et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD
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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."