Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.R753insFs
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XPC

NM_004628.5:p.R753insFs

Associated Papers

Early-onset gynecological tumors in DNA repair-deficient xeroderma pigmentosum group C patients: a case series.

Yurchenko AA et al.

Communications Medicine, 2023

Novel compound heterozygous variants in the XPC gene identified in a Chinese xeroderma pigmentosum group C patient with ovarian teratoma.

Tang L et al.

The Journal of Dermatology, 2018

Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant.

Gu Y et al.

Gene, 2017

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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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."