Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.D194E
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G6PD

NM_001360016.2:p.D194E

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

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

Powell NR et al.

Genetics, 2024

39607789 (PubMed )
Supplement: iyae170_supplementary_data.zip › Table_S3_GENETICS-2024-307089.xlsx › Table_S3

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

38645242 (PubMed )
Supplement: NIHPP2024.04.12.24305393v1-supplement-3.pdf

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

Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution.

Powers JL et al.

The Journal of Applied Laboratory Medicine, 2018

New cases of Glucose-6-Phosphate Dehydrogenase deficiency in Pulmonary Arterial Hypertension.

Kurdyukov S et al.

Plos One, 2018

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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."