Varaico: Literature-Extracted Genetic Variants

Gene:H6PD
Variant:p.P92S
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H6PD

NM_004285.4:p.P92S

Associated Papers

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C et al.

Ebiomedicine, 2024

38168586 (PubMed )
Supplement: mmc1.pdf

Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China.

Wei H et al.

Frontiers in Genetics, 2022

Rapid and reliable detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Han Chinese using high-resolution melting analysis.

Yan JB et al.

The Journal of Molecular Diagnostics : Jmd, 2010

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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."