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Sunday, December 18, 2016

mutation: "c.1387-9T>A" MSH2 open access

open access:
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry

  MSH2 c.1387-9T>A creates a de novo acceptor site causing a 7 base-pair inclusion of intron 8 (Figure 2f), with de novo acceptor creation and interruption of the wild-type acceptor site predicted by MaxEntScan (Supp. Table S8).


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