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Article

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

Human mutation - 1 Apr 2011

Raponi Michela, Kralovicova Jana, Copson Ellen, Divina Petr, Eccles Diana, Johnson Peter, Baralle Diana, Vorechovsky Igor

Abstract excerpt

Missense, nonsense, and translationally silent mutations can inactivate genes by altering the inclusion of mutant exons in mRNA, but their overall frequency among disease-causing exonic substitutions is unknown. Here, we have tested missense and silent mutations deposited in the BRCA1 mutation da...

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Identifiers

PMID: 21309043
DOI: 10.1002/humu.21458

Genes

BRCA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21309043-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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