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Article

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.

Human mutation - 1 Jan 2004

Eng Laura, Coutinho Gabriela, Nahas Shareef, Yeo Gene, Tanouye Robert, Babaei Mahnoush, Dörk Thilo, Burge Christopher, Gatti Richard A

Abstract excerpt

Ataxia-telangiectasia (A-T) is an autosomal recessive neurological disorder caused by mutations in the ATM gene. Classical splicing mutations (type I) delete entire exons during pre-mRNA splicing. In this report, we describe nine examples of nonclassical splicing mutations in 12 A-T patients and compare cDNA changes to estimates of splice junction strengths based on maximum entropy modeling. These mutations fall...

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Identifiers

PMID: 14695534
DOI: 10.1002/humu.10295

Genes

ATM

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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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