Associated Papers
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
Rohlin A et al.
Familial Cancer, 2017
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
26333163 (PubMed )
Supplement: supplement_1.pdf
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.
Drost M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
Chao EC et al.
Human Mutation, 2008
Select a paper to view details