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Article

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

2 Mar 2017

Abstract excerpt

Abstract Purpose To evaluate the role of germline SDHA mutation analysis by (1) comprehensive literature review, (2) description of novel germline SDHA mutations and (3) in silico structural prediction analysis of missense substitutions in SDHA. Patients and methods A systematic literature review and a retrospective review of the molecular and clinical features of patients identified with putative germline...

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PMID: 28546994
DOI: 10.1002/mgg3.279

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