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Elsevier, EBioMedicine, (81), p. 104130, 2022

DOI: 10.1016/j.ebiom.2022.104130

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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Journal article published in 2022 by Francesco Miceli ORCID, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino ORCID, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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