Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.N122I
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G6PD

NM_001360016.2:p.N122I

Associated Papers

Lack of association between G6PD variants and Parkinson disease.

Chifamba LV et al.

Hgg Advances, 2026

41376170 (PubMed )
Supplement: mmc2.xlsx › S_table_3_rare

Investigating effect of mutation on structure and function of G6PD enzyme: a comparative molecular dynamics simulation study.

Rani S et al.

Peerj, 2022

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P et al.

International Journal of Molecular Sciences, 2021

33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.pdf

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 › ClinVar
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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."