Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R454P
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G6PD

NM_001360016.2:p.R454P

Associated Papers

Pathogenic G6PD variants: Different clinical pictures arise from different missense mutations in the same codon.

Costa S et al.

British Journal of Haematology, 2024

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

Powers JL et al.

The Journal of Applied Laboratory Medicine, 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."