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Article

Bioinformatics and mutations leading to exon skipping.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2012

Desmet F O, Béroud C

Abstract excerpt

Our knowledge about human genes and the consequences of mutations leading to human genetic diseases has drastically improved over the last few years. It has been recognized that many mutations are indeed pathogenic because they impact the mRNA rather than the protein itself. With our better understanding of the very complex mechanism of splicing, various bioinformatics tools have been developed. They are now...

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PMID: 22454052
DOI: 10.1007/978-1-61779-767-5_2

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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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