|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.
|
16830052 |
2006 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants.
|
12377806 |
2002 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The HNPCC-related hMLH1 mutations T117M, V185G, R217C, G244D, R265C, V326A, and K618T, the polymorphisms I219V and R265H, and a hMLH1 splicing variant lacking exon 9 and 10 (hMLH1 Delta 9/10) were cloned.
|
11781295 |
2002 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
|
15300854 |
2004 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.
|
8574961 |
1996 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
|
8566964 |
1996 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.
|
19863800 |
2009 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
|
10480359 |
1999 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
MLH1 mutations differentially affect meiotic functions in Saccharomyces cerevisiae.
|
12618391 |
2003 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.
|
17135187 |
2006 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Extensive molecular screening for hereditary non-polyposis colorectal cancer.
|
10732761 |
2000 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
|
12810663 |
2003 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.
|
11948175 |
2002 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
|
18561205 |
2008 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.
|
12522551 |
2003 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.
|
18470917 |
2008 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
|
16395668 |
2006 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.
|
19224586 |
2009 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
|
19267393 |
2009 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer.
|
11601928 |
2001 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
|
20864636 |
2010 |