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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...
Autores principales: | Henn, Jonas, Spier, Isabel, Adam, Ronja S., Holzapfel, Stefanie, Uhlhaas, Siegfried, Kayser, Katrin, Plotz, Guido, Peters, Sophia, Aretz, Stefan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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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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