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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLH

Variant:p.S548delFs

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POLH

NM_006502.3:p.S548delFs

hg38:chr6:43614057 TCA>T

Associated Papers

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.

Santiago KM et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020

32239545 (PubMed )

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

Armenta AM et al.

Jaad Case Reports, 2018

30511002 (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."