Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.S140_E141delFs
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XPC

NM_004628.5:p.S140_E141delFs

Associated Papers

DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.

Hozhabrpour A et al.

Dna Repair, 2024

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Genetic skin disorders: The value of a multidisciplinary clinic.

Parker JC et al.

American Journal of Medical Genetics. Part A, 2021

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

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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."