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Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene

Lynch syndrome (LS) is a common cancer predisposition caused by an inactivating mutation in one of four DNA mismatch repair (MMR) genes. Frequently a variant of uncertain significance (VUS), rather than an obviously pathogenic mutation, is identified in one of these genes. The inability to define pa...

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Autors principals: Drost, Mark, Koppejan, Hester, de Wind, Niels
Format: Artigo
Idioma:Inglês
Publicat: 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3858603/
https://ncbi.nlm.nih.gov/pubmed/24027009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22426
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