rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Classification of mismatch repair gene missense variants with PON-MMR.
|
22290698 |
2012 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.
|
17720936 |
2007 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
|
16995940 |
2006 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
|
15849733 |
2005 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
|
15235030 |
2004 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
|
12124176 |
2002 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
|
10469597 |
1999 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.
|
9774676 |
1998 |
rs63751207
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.
|
8521394 |
1995 |
rs63751207
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We have identified the source of the genetic instability in one ovarian tumor as a point mutation (R524P) in the human mismatch-repair gene MSH2 (Salmonella MutS homologue), which has recently been shown to be involved in hereditary nonpolyposis colorectal cancer.
|
7937795 |
1994 |