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

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

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Main Authors: Raponi, Michela (Author), Kralovicova, Jana (Author), Copson, Ellen (Author), Divina, Petr (Author), Eccles, Diana (Author), Johnson, Peter (Author), Baralle, Diana (Author), Vorechovsky, Igor (Author)
Format: Article
Language:English
Published: 2011-04.
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