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Integrative identification of the pathogenic role of a novel G6PD missense mutation c.697G>C
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary disease caused by pathogenic mutations of G6PD. While most of the pathogenic variants of G6PD have been annotated, hemolysis of unknown etiology but analogous to that in G6PD deficiency persists, implying the existence o...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940930/ https://www.ncbi.nlm.nih.gov/pubmed/33708821 http://dx.doi.org/10.21037/atm-20-3941 |