Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.S548fs
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POLH

NM_006502.3:p.S548fs

Associated Papers

Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman.

Armenta AM et al.

Jaad Case Reports, 2018

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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."