Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing
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| Description | scientific article |
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author: Christiane Landgraf Annalisa Pastore Mathieu Bollen Rudolf Volkmer-Engert Monique Beullens |
| Publication date | June 18, 2010 |
| Language | English |
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