Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.K868_S869Splc
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XPC

NM_004628.5:p.K868_S869Splc

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc3.xlsx › standard

SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C.

Nomura F et al.

Genes, 2023

38003022 (PubMed )
Supplement: genes-14-02079-s001.zip › genes-2690793-supplementary.pdf
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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."