|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
|
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 |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
|
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 |
|
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 |
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 |
Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.
|
18726168 |
2009 |
|
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 |
Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.
|
18470917 |
2008 |
|
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 |
The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations.
|
18373977 |
2008 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
|
18772310 |
2008 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
|
18547406 |
2008 |
|
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 |
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 |
Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.
|
17135187 |
2006 |
|
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 |
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.
|
17192056 |
2006 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
|
16451135 |
2006 |
|
rs63750781
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
|
15713769 |
2005 |
|
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 |
MLH1 mutations differentially affect meiotic functions in Saccharomyces cerevisiae.
|
12618391 |
2003 |
|
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 |
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.
|
12522551 |
2003 |