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Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

BACKGROUND: In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected genes. The present study aimed to establish and validate a large gene panel for HTS, and determine its diagnostic yield and clini...

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Detalles Bibliográficos
Autores principales: Henn, Jonas, Spier, Isabel, Adam, Ronja S., Holzapfel, Stefanie, Uhlhaas, Siegfried, Kayser, Katrin, Plotz, Guido, Peters, Sophia, Aretz, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343270/
https://www.ncbi.nlm.nih.gov/pubmed/30680046
http://dx.doi.org/10.1186/s13053-018-0102-4

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