Associated Papers
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H et al.
Brain : a Journal of Neurology, 2023
38040034 (PubMed )
Supplement: awad266_supplementary_data.pdf
Structural modeling and analyses of genetic variations in the human XPC nucleotide excision repair protein.
Le J et al.
Journal of Biomolecular Structure & Dynamics, 2023
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
Macke EL et al.
Cold Spring Harbor Molecular Case Studies, 2020
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
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