Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Coding variants in human double-strand break DNA repair genes.

Mutation research - 30 Nov 2002

Ruttan Cindy C, Glickman Barry W

Abstract excerpt

DNA repair is essential for the maintenance of genomic integrity. Consequently, altered repair capacity may impact individual health in such areas as aging and susceptibility to certain diseases. Defects in some DNA repair genes, for example, have been shown to increase cancer risk, accelerate aging and impair neurological functions. Now that over 115 genes directly involved in human DNA repair have been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Chromosome Breakage
Share to Codon

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Repair

Share to Gene Frequency

Share to Neoplasms

Share to Population Surveillance

Source

Identifiers

PMID: 12427538
DOI: 10.1016/s0027-5107(02)00218-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Coding variants in human double-strand break DNA repair genes.PMID 12427538Read ↗

Single nucleotide polymorphisms in DNA repair genes and putative cancer risk.Semantic proximity Read ↗

Human DNA repair genesSemantic proximity Read ↗

Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.Semantic proximity Read ↗

Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans.Semantic proximity Read ↗

Single nucleotide polymorphisms in DNA glycosylases: From function to disease.Semantic proximity Read ↗

A novel class of non-coding variants driving DNA double-strand breaks is associated with complex genetic diseasesSemantic proximity Read ↗

Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in human DNA repair genes.Semantic proximity Read ↗

Common single-nucleotide polymorphisms in DNA double-strand break repair genes and breast cancer risk.Semantic proximity Read ↗

Gene susceptibility to oxidative damage: from single nucleotide polymorphisms to function.Semantic proximity Read ↗

Survey of polymorphic sequence variation in the immediate 5' region of human DNA repair genes.Semantic proximity Read ↗

Polymorphisms in DNA repair and environmental interactions.Semantic proximity Read ↗

Challenges and complexities in estimating both the functional impact and the disease risk associated with the extensive genetic variation in human DNA repair genes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.