rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
|
24362816 |
2014 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
|
21120944 |
2011 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
|
20533529 |
2010 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
|
17594722 |
2007 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
|
16083711 |
2005 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
|
15365995 |
2004 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
|
11839723 |
2002 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
|
11781295 |
2002 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
|
11793442 |
2002 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
|
11726306 |
2001 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.
|
11748856 |
2001 |
rs63750610
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
|
11726306 |
2001 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.
|
10375096 |
1999 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Missense mutations in hMLH1 associated with colorectal cancer.
|
10598809 |
1999 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
|
10413423 |
1999 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
|
9833759 |
1998 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
|
9559627 |
1998 |
rs63750610
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability. Mutations in brief no. 157. Online.
|
10627141 |
1998 |