De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Maria J. Nabais Sá, Geniver El Tekle, Arjan P.M. de Brouwer, Sarah L. Sawyer, Daniela del Gaudio, Michael J. Parker, Farah Kanani, Marie José H. van den Boogaard, Koen van Gassen, Margot I. Van Allen, Klaas Wierenga, Gabriela Purcarin, Ellen Roy Elias, Amber Begtrup, Jennifer Keller-Ramey, Tiziano Bernasocchi, Laurens van de Wiel, Christian Gilissen, Hanka Venselaar, Rolph PfundtLisenka E.L.M. Vissers, Jean Philippe P. Theurillat*, Bert B.A. de Vries

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology