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
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
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
Structure and mechanism of human DNA polymerase eta.
Biertümpfel C et al.
Nature, 2010
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