rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
rs63750781
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Evidence for breast cancer as an integral part of Lynch syndrome.
|
22034109 |
2012 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.
|
22322191 |
2012 |
rs63750781
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
|
19267393 |
2009 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
|
19267393 |
2009 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
|
18566915 |
2009 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.
|
19698169 |
2009 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
rs63750781
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.
|
17135187 |
2006 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.
|
17135187 |
2006 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
|
15713769 |
2005 |
rs63750781
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis.
|
20233461 |
2004 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis.
|
20233461 |
2004 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.
|
12810663 |
2003 |
rs63750781
|
|
G |
0.700 |
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 |
0.700 |
CausalMutation |
CLINVAR |
Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation.
|
12112654 |
2002 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
|
11781295 |
2002 |
rs63750781
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
|
11555625 |
2001 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes.
|
11429708 |
2001 |
rs63750781
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
|
9697702 |
1998 |
rs63750781
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
|
9697702 |
1998 |
rs63750781
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.
|
8592341 |
1995 |