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Predicted Succinated Dehydrogenase Subunit Variant Pathogenicity: Why Are SDHB Variants “Bad”?

Variants in the 4 genes encoding subunits A-D of succinate dehydrogenase (SDH) are associated with paraganglioma and pheochromocytoma. Intuitively, loss-of-function variants affecting any of the subunits should equally diminish SDH function leading to succinate accumulation and tumorigenesis after l...

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Detalles Bibliográficos
Autores principales:	Gruber, Lucinda, Maher, L James
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Adrenal
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089237/ http://dx.doi.org/10.1210/jendso/bvab048.144

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