rs121908565
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
|
24130121 |
2014 |
rs56307355
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
|
24130121 |
2014 |
rs121908565
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
|
11773631 |
2002 |
rs56307355
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.
|
11773631 |
2002 |
rs121908565
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.
|
11121129 |
2000 |
rs121908565
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.
|
11032022 |
2000 |
rs56307355
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.
|
11121129 |
2000 |
rs56307355
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene.
|
11032022 |
2000 |
rs56307355
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.
|
11121129 |
2000 |
rs121908565
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
hRAD30 mutations in the variant form of xeroderma pigmentosum.
|
10398605 |
1999 |
rs121908565
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
|
10385124 |
1999 |
rs56307355
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
hRAD30 mutations in the variant form of xeroderma pigmentosum.
|
10398605 |
1999 |
rs56307355
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta.
|
10385124 |
1999 |
rs121908565
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs56307355
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs752080248
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
|
26884178 |
2016 |
rs772570523
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
|
27004399 |
2016 |
rs1413703153
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
|
24130121 |
2014 |
rs199562456
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
|
24130121 |
2014 |
rs756931657
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
|
24130121 |
2014 |
rs758423288
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
|
24130121 |
2014 |
rs759607901
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
|
24130121 |
2014 |
rs121908562
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.
|
18703314 |
2008 |
rs745778317
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.
|
18703314 |
2008 |
rs752080248
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
|
18368133 |
2008 |