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Article

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites.

Human mutation - 1 Sept 2009

Le Guédard-Méreuze Sandie, Vaché Christel, Molinari Nicolas, Vaudaine Julie, Claustres Mireille, Roux Anne-Françoise, Tuffery-Giraud Sylvie

Abstract excerpt

Variations at position +3 of 5' splice-sites (5'ss) are reported to induce aberrant splicing in some cases but not in others suggesting that the overall nucleotidic environment can dictate the extent to which 5'ss are correctly selected. Functional studies of three variations identified in donor splice-sites of USH2A and PCDH15 genes sustain this assumption. To gain insights into this question, we compared the...

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PMID: 19606495
DOI: 10.1002/humu.21070

Genes

PCDH15

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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