Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.S523_Q524delFs
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POLH

NM_006502.3:p.S523_Q524delFs

Associated Papers

Genetics and genomic medicine in Tunisia.

Elloumi-Zghal H et al.

Molecular Genetics & Genomic Medicine, 2018

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.

Ben Rekaya M et al.

Biomed Research International, 2014

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

Ben Rekaya M et al.

Journal of Genetics, 2011

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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."