Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.W236fs
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DDB2

NM_000107.3:p.W236fs

Associated Papers

Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report.

de Souza Timoteo AR et al.

Bmc Medical Genomics, 2023

Expanding molecular roles of UV-DDB: Shining light on genome stability and cancer.

Beecher M et al.

Dna Repair, 2020

Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.

Karagün E et al.

International Journal of Dermatology, 2020

Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.

Yang R et al.

Bmc Medical Genetics, 2020

Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.

Oh KS et al.

The Journal of Investigative Dermatology, 2011

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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."