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Article Source: Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site
Martínez-Pizarro A, Dembic M, Pérez B, Andresen BS, Desviat LR (2018) Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site. PLOS Genetics 14(4): e1007360. https://doi.org/10.1371/journal.pgen.1007360

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