De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

Thomas D. Cushion, Alex R. Paciorkowski, Daniela T. Pilz, Jonathan G.L. Mullins, Laurie E. Seltzer, Robert W. Marion, Emily Tuttle, Dalia Ghoneim, Susan L. Christian, Seo Kyung Chung, Mark I. Rees, William B. Dobyns

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54 Scopus citations

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Medicine & Life Sciences