Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.P703L
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XPC

NM_004628.5:p.P703L

Associated Papers

The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies.

Sarasin A

Cancers, 2023

37345043 (PubMed )
Supplement: cancers-15-02706-s001.zip › cancers-2362746-supplementary.pdf

Structural modeling and analyses of genetic variations in the human XPC nucleotide excision repair protein.

Le J et al.

Journal of Biomolecular Structure & Dynamics, 2023

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Pugh J et al.

Jama Dermatology, 2019

Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.

Jacobelli S et al.

The British Journal of Dermatology, 2008

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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."