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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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主要な著者: | , , |
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フォーマット: | Artigo |
言語: | Inglês |
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2013
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オンライン・アクセス: | 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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