Associated Papers
Cracking rare disorders: a new minimally invasive RNA-seq protocol.
De Cock L et al.
Npj Genomic Medicine, 2025
Monozygotic twins with group C xeroderma pigmentosum due to a compound heterozygous mutation in XPC gene.
Zhang SD et al.
The Journal of Dermatology, 2019
A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
Rivera-Begeman A et al.
Dna Repair, 2007
Validation of XP-C pathogenic variations in archival material from a live XP patient.
McDaniel LD et al.
Dna Repair, 2007
Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.
Feltes BC
Mutation Research. Reviews in Mutation Research, 0
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