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Patterns and mutational signatures of tandem base substitutions causing human inherited disease.

Human mutation - 1 Aug 2013

Chen Jian-Min, Férec Claude, Cooper David N

Abstract excerpt

Tandem base substitutions (TBSs) are multiple mutations that comprise two or more contiguous nucleotide substitutions without any net gain or loss of bases. They have recently become recognized as a distinct category of human genomic variant. However, their role in causing human inherited disease so far has not been studied methodically. Here, using data from the Human Gene Mutation Database...

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Identifiers

PMID: 23606422
DOI: 10.1002/humu.22341

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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.

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