Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R249G
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G6PD

NM_000402.4:p.R249G

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

Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant.

Zgheib O et al.

Communications Biology, 2023

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