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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLH

Variant:p.K583_S588del6

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POLH

NM_006502.3:p.K583_S588del6

hg38:chr6:43614161 GAAGCTAGAAGAATCCTCT>G

Associated Papers

A Case of Xeroderma Pigmentosum Variant Type With a Novel Mutation Diagnosed in Early Childhood.

Okuwa M et al.

Photodermatology, Photoimmunology & Photomedicine, 2025

39673222 (PubMed )

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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."