Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21409/fullpdf
Reference34 articles.
1. Clues to the pathogenesis of familial colorectal cancer;Aaltonen;Science,1993
2. Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and Tyrosinase (TYR);Chan;Hum Mutat,2007
3. Steady-state regulation of the human DNA mismatch repair system;Chang;J Biol Chem,2000
4. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR);Chao;Hum Mutat,2008
5. Functional characterisation of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients;Christensen;Familial Cancer,2009
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