Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. | 10385124 | 1999 |
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|
0.700 | GeneticVariation | UNIPROT | Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. | 11032022 | 2000 |
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|
0.700 | GeneticVariation | UNIPROT | hRAD30 mutations in the variant form of xeroderma pigmentosum. | 10398605 | 1999 |
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|
0.700 | 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 |
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|
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 |
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|
0.700 | 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 |
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|
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 |
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|
0.700 | GeneticVariation | UNIPROT | Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients. | 11773631 | 2002 |
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|
0.700 | GeneticVariation | UNIPROT | The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. | 10385124 | 1999 |
||||
|
0.700 | GeneticVariation | UNIPROT | Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. | 11032022 | 2000 |
||||
|
0.700 | GeneticVariation | UNIPROT | hRAD30 mutations in the variant form of xeroderma pigmentosum. | 10398605 | 1999 |