Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.W297*
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POLH

NM_006502.3:p.W297*

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.

Langenberg KPS et al.

European Journal of Cancer (oxford, England : 1990), 2022

36182817 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Pugh J et al.

Jama Dermatology, 2019

Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.

Liu X et al.

International Journal of Medical Sciences, 2013

Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.

Feltes BC et al.

Mutation Research. Reviews in Mutation Research, 0

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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."