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Article

Yeast-based assays for characterization of the functional effects of single nucleotide polymorphisms in human DNA repair genes.

PloS one - 1 Jan 2018

Kim Changshin, Yang Jinmo, Jeong Su-Hyun, Kim Hayoung, Park Geun-Hee, Shin Hwa Beom, Ro MyungJa, Kim Kyoung-Yeon, Park YoungJoon, Kim Keun Pil, Kwack KyuBum

Abstract excerpt

DNA repair mechanisms maintain genomic integrity upon exposure to various types of DNA damage, which cause either single- or double-strand breaks in the DNA. Here, we propose a strategy for the functional study of single nucleotide polymorphisms (SNPs) in the human DNA repair genes XPD/ERCC2, RAD18, and KU70/XRCC6 and the checkpoint activation gene ATR that are essentially involved in the cell cycle and DNA...

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Source

Open in PubMed Open full text

Identifiers

PMID: 29522548
DOI: 10.1371/journal.pone.0193823
PMCID: PMC5844570

Genes

ERCC2
RAD18
ATR
XRCC6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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