Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.R313*
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DDB2

NM_000107.3:p.R313*

Associated Papers

Chemoproteogenomic stratification of the missense variant cysteinome.

Desai H et al.

Nature Communications, 2024

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Multi-omic stratification of the missense variant cysteinome.

Desai H et al.

Biorxiv : the Preprint Server for Biology, 2023

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

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
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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."