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Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm

BACKGROUND: Lynch syndrome is a hereditary cancer syndrome associated with high risks of colorectal and endometrial cancer that is caused by pathogenic variants in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM). Accurate classification of variants identified in these genes as pathogenic o...

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Detalhes bibliográficos
Publicado no:BMC Genet
Main Authors: Morris, Brian, Hughes, Elisha, Rosenthal, Eric, Gutin, Alexander, Bowles, Karla R.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929734/
https://ncbi.nlm.nih.gov/pubmed/27363726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12863-016-0407-0
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