Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.Q195H
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G6PD

NM_001360016.2:p.Q195H

Associated Papers

Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.

Tacoli C et al.

Scientific Reports, 2025

41423656 (PubMed )
Supplement: 41598_2025_31822_MOESM3_ESM.xlsx › Sheet1

Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.

Tacoli C et al.

Biorxiv : the Preprint Server for Biology, 2025

40666837 (PubMed )
Supplement: media-2.xlsx › Sheet1

An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population.

Hernández-Ochoa B et al.

International Journal of Molecular Sciences, 2023

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

Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan.

Chiu YH et al.

Data in Brief, 2019

Functional characterization of the p.(Gln195His) or Tainan and novel p.(Ser184Cys) or Toluca glucose-6-phosphate dehydrogenase (G6PD) gene natural variants identified through Mexican newborn screening for glucose-6-phosphate dehydrogenase deficiency.

Alcántara-Ortigoza MA et al.

Clinical Biochemistry, 0

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