rs63751466
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
|
25512458 |
2015 |
rs63751466
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs63751466
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
rs63751466
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
rs63751466
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
rs63751466
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
|
18824584 |
2008 |
rs63751466
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
PMS2 mutations in childhood cancer.
|
16507833 |
2006 |
rs63751466
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.
|
15077197 |
2004 |
rs63751466
|
Entrez Id: |
5395 |
Gene Symbol: |
PMS2 |
PMS2
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
A hPMS2 mutant cell line is defective in strand-specific mismatch repair.
|
7629132 |
1995 |