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Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework
PURPOSE: Gene-disease associations implicated in hereditary colorectal cancer and polyposis susceptibility were evaluated using the ClinGen Clinical Validity framework. METHODS: Forty-two gene-disease pairs were assessed for strength of evidence supporting an association with hereditary colorectal c...
Autores principales: | Seifert, Bryce A., McGlaughon, Jennifer L., Jackson, Sarah A., Ritter, Deborah I, Roberts, Maegan E., Schmidt, Ryan J., Thompson, Bryony A., Jimenez, Sharisse, Trapp, Mackenzie, Lee, Kristy, Plon, Sharon E., Offit, Kenneth, Stadler, Zsofia K., Zhang, Liying, Greenblatt, Marc S., Ferber, Matthew J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579719/ https://www.ncbi.nlm.nih.gov/pubmed/30523343 http://dx.doi.org/10.1038/s41436-018-0373-1 |
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