Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.E201fs
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XPA

NM_000380.4:p.E201fs

Associated Papers

Genotype-Phenotype Associations in a Robust Cohort of 69 Xeroderma Pigmentosum Patients across Türkiye: A Multicenter Study.

Baskurt D et al.

The British Journal of Dermatology, 2026

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.

Sagun JP et al.

Plos Genetics, 2024

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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."