Associated Papers
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
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 2017
Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.
Meneses M et al.
Dermatology (basel, Switzerland), 2015
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