Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Multivariate analysis as a method for evaluating the pathogenicity of novel genetic MLH1 variants in patients with colorectal cancer and microsatellite instability.
|
26096739 |
2015 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive functional assessment of MLH1 variants of unknown significance.
|
22736432 |
2012 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
|
21642682 |
2011 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
|
20020535 |
2010 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
|
18383312 |
2008 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations.
|
18373977 |
2008 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
|
17510385 |
2007 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
|
16395668 |
2006 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
|
15365995 |
2004 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers.
|
14526391 |
2003 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
|
11781295 |
2002 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
|
11793442 |
2002 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
|
11781295 |
2002 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.
|
12183410 |
2002 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.
|
12183410 |
2002 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
|
11839723 |
2002 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Allele separation facilitates interpretation of potential splicing alterations and genomic rearrangements.
|
12183410 |
2002 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
|
0.700 |
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 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
|
11555625 |
2001 |