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Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants

Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects over 500 million individuals who can experience anemia in response to oxidative stressors such as certain foods and drugs. Recently, the World Health Organization (WHO) called for revisiting G6PD variant classification as a priority to impl...

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Detalles Bibliográficos
Autores principales: Geck, Renee C., Powell, Nicholas R., Dunham, Maitreya J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943724/
https://www.ncbi.nlm.nih.gov/pubmed/36681081
http://dx.doi.org/10.1016/j.ajhg.2023.01.003