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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929734/ https://www.ncbi.nlm.nih.gov/pubmed/27363726 http://dx.doi.org/10.1186/s12863-016-0407-0 |