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

Research output: Journal article (peer-reviewed)Journal article

20 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology

Neuroscience