rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Endonucleolytic function of MutLalpha in human mismatch repair.
|
16873062 |
2006 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
|
23012243 |
2013 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
|
24027009 |
2013 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance.
|
20624957 |
2010 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair.
|
17029773 |
2007 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.
|
20176959 |
2010 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
|
26318770 |
2015 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
|
26110232 |
2016 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations affecting a putative MutLalpha endonuclease motif impact multiple mismatch repair functions.
|
17567544 |
2007 |
rs267608161
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |