Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.V751_S765delFs
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XPC

NM_004628.5:p.V751_S765delFs

Associated Papers

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.

Santiago KM et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."