Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.F218_Y219insT
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XPC

NM_004628.5:p.F218_Y219insT

Associated Papers

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

Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients.

Kobayashi H et al.

The Journal of Dermatology, 2023

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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."