Potentially pathogenic and pathogenic G6PD variants
- PMID: 37922885
- PMCID: PMC10645560
- DOI: 10.1016/j.ajhg.2023.10.003
Potentially pathogenic and pathogenic G6PD variants
Comment in
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Response to Luzzatto et al.Am J Hum Genet. 2023 Nov 2;110(11):1986. doi: 10.1016/j.ajhg.2023.10.004. Am J Hum Genet. 2023. PMID: 37922886 Free PMC article. No abstract available.
Comment on
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Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.Am J Hum Genet. 2023 Feb 2;110(2):228-239. doi: 10.1016/j.ajhg.2023.01.003. Epub 2023 Jan 20. Am J Hum Genet. 2023. PMID: 36681081 Free PMC article.
References
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- Gammal R.S., Pirmohamed M., Somogyi A.A., Morris S.A., Formea C.M., Elchynski A.L., Oshikoya K.A., McLeod H.L., Haidar C.E., Whirl-Carrillo M., et al. Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype. Clin Pharmacol Ther. 2022;113:973–985. - PMC - PubMed
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- Luzzatto L., Ally M., Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Blood. 2020;136:1225–1240. - PubMed
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