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Article

Classification of mismatch repair gene missense variants with PON-MMR

30 Jan 2012

Abstract excerpt

Numerous mismatch repair (MMR) gene variants have been identified in Lynch syndrome and other cancer patients, but knowledge about their pathogenicity is frequently missing. The diagnosis and treatment of patients would benefit from knowing which variants are disease related. Bioinformatic approaches are well suited to the problem and can handle large numbers of cases. Functional effects were revealed based on...

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PMID: 22290698
DOI: 10.1002/humu.22038

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