Associated Papers
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
Opletalova K et al.
Human Mutation, 2014
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.
Liu X et al.
International Journal of Medical Sciences, 2013
A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.
Ben Rekaya M et al.
Journal of Genetics, 2011
Modulation of oxidative mutagenesis and carcinogenesis by polymorphic forms of human DNA repair enzymes.
Nohmi T et al.
Mutation Research, 2005
Molecular genetics of Xeroderma pigmentosum variant.
Gratchev A et al.
Experimental Dermatology, 2003
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