Varaico: Literature-Extracted Genetic Variants

Gene:POLH
Variant:p.M647L
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POLH

NM_006502.3:p.M647L

Associated Papers

Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.

Arniani S et al.

Leukemia, 2022

35974102 (PubMed )
Supplement: 41375_2022_1671_MOESM2_ESM.xlsx › Table_18

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report.

Xie H et al.

Medicine, 2018

Personal exposure to PM2.5, genetic variants and DNA damage: a multi-center population-based study in Chinese.

Chu M et al.

Toxicology Letters, 2015

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Mutations in DNA polymerase eta are not detected in squamous cell carcinoma of the skin.

Glick E et al.

International Journal of Cancer, 2006

DNA polymerases and human diseases.

Sweasy JB et al.

Radiation Research, 2006

Modulation of oxidative mutagenesis and carcinogenesis by polymorphic forms of human DNA repair enzymes.

Nohmi T et al.

Mutation Research, 2005

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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."