SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.

Journal of medical genetics(2023)

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摘要
truncating variants convey an elevated risk for development of both PPGL and malignancy compared with missense variants. These results further support earlier robust associations between truncating variants and PPGL, and also suggest that the two variant types differ in their impact on complex II function, with PPGL/HNPGL tissues displaying differing sensitivities to changes in complex II function.
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关键词
adrenal gland diseases,endocrine gland neoplasms,genotype,phenotype
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