A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J Obermair, Maja Hempel, Bernhard E Flucher, Kerstin Kutsche

Publikation: Beitrag in Fachzeitschrift (peer-reviewed) › Artikel in Fachzeitschrift

21 Zitate (Scopus)

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Neuroscience

Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry