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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.
Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson AC, Mazack V, Humbert J, Gaffney CJ, Beullens M, Schwartz CE, Landgraf C, Volkmer R, Pastore A, Farooq A, Bollen M, Sudol M
J Biol Chem. 2010 Apr 21. ():.
PubMed Article

Plasmids from Article

ID Plasmid  
25802pcDNA4-His-Max-A-PQBP1
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25803pcDNA4-His-Max-A-PQBP1-Y65C
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25804pcDNA3-HA-PQBP1
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