Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome. [electronic resource]
Producer: 20150330Description: 1019-20 p. digitalISSN:- 1432-1262
- Adaptor Proteins, Signal Transducing -- genetics
- Colorectal Neoplasms, Hereditary Nonpolyposis -- genetics
- DNA Mismatch Repair -- genetics
- Genetic Predisposition to Disease
- Humans
- Microsatellite Instability
- MutL Protein Homolog 1
- Mutation -- genetics
- Nuclear Proteins -- genetics
- RNA Splice Sites -- genetics
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Publication Type: Letter; Research Support, Non-U.S. Gov't
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