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Article

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.

The FEBS journal - 1 Dec 2008

Raponi Michela, Buratti Emanuele, Llorian Miriam, Stuani Cristiana, Smith Christopher W J, Baralle Diana

Abstract excerpt

In disease-associated genes, understanding the functional significance of deep intronic nucleotide variants represents a difficult challenge. We previously reported that an NF1 intron 30 exonization event is triggered from a single correct nomenclature is 'c.293-279 A>G' mutation [Raponi M, Upadhyaya M & Baralle D (2006) Hum Mutat 27, 294-295]. In this paper, we investigate which characteristics play a role in...

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Identifiers

PMID: 19016857
DOI: 10.1111/j.1742-4658.2008.06734.x

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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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