Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
|
24278394 |
2013 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Mismatch repair gene mutation analysis and colonoscopy surveillance in Chinese Lynch syndrome families.
|
23640085 |
2013 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
|
23403630 |
2013 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
|
22949379 |
2013 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
|
24278394 |
2013 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
|
21952876 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
An American founder mutation in MLH1.
|
21671475 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.
|
22776989 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
|
22753075 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Classification of mismatch repair gene missense variants with PON-MMR.
|
22290698 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive functional assessment of MLH1 variants of unknown significance.
|
22736432 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
|
23047549 |
2012 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.
|
21840485 |
2011 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
|
21120944 |
2011 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
|
21120944 |
2011 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
|
21120944 |
2011 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
|
21404117 |
2011 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
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
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
|
20864636 |
2010 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening.
|
20034658 |
2010 |
Hereditary Non-Polyposis Colon Cancer Type 2
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
|
20533529 |
2010 |