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

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."