Associated Papers
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N et al.
Orphanet Journal of Rare Diseases, 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
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
Inui H et al.
The Journal of Investigative Dermatology, 2008
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