Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R17Q
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G6PD

NM_001360016.2:p.R17Q

Associated Papers

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

Significance of 3'UTR and Pathogenic Haplotype in Glucose-6-Phosphate Deficiency.

Chaowanathikhom M et al.

Laboratory Medicine, 2017

Analysis of the substrate specificity loop of the HAD superfamily cap domain.

Lahiri SD et al.

Biochemistry, 2004

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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."