Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family by Vera M. Kalscheuer, Vera M. Kalscheuer, Victoria M. James, Miranda L. Himelright, Philip Long, Renske Oegema, Corinna Jensen, Melanie Bienek, Hao Hu, Stefan A. Haas, Maya Topf, A. Jeannette M. Hoogeboom, Kirsten Harvey, Randall Walikonis, Robert J. Harvey

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Human mutations in integrator complex subunits link transcriptome integrity to brain development. by Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini

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