Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing (Q24634410)

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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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    Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing (English)
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    Victor E Tapia
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    Emilia Nicolaescu
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    Caleb B McDonald
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    Valeria Musi
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    Tsutomu Oka
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    Yujin Inayoshi
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    Adam C Satteson
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    Virginia Mazack
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    Jasper Humbert
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    Christian J Gaffney
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    Charles E Schwartz
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    Amjad Farooq
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    Marius Sudol
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    18 June 2010
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    285
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    25
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    19391-401
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