Mutation p.R356Q in the collybistin phosphoinositide binding site is associated with mild intellectual disability

Tzu Ting Chiou, Philip Long, Alexandra Schumann-Gillett, Venkateswarlu Kanamarlapudi, Stefan A. Haas, Kirsten Harvey, Megan L. O’Mara, Angel L. De Blas, Vera M. Kalscheuer, Robert J. Harvey*

*Corresponding author for this work

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    Biochemistry, Genetics and Molecular Biology