Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
|
26895986 |
2016 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
|
22658618 |
2012 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pediatric duodenal cancer and biallelic mismatch repair gene mutations.
|
19283792 |
2009 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.
|
16283678 |
2005 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
|
16144131 |
2005 |
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
|
16144131 |
2005 |
Hereditary Nonpolyposis Colorectal Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
|
16144131 |
2005 |
Pulmonary arterial hypertension
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Turcot syndrome (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Pulmonary Valve Insufficiency
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Respiratory Insufficiency
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|