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.

Journal: PLOS Genetics

Published: 2020-03-16

DOI: 10.1371/journal.pgen.1008625

Affiliations: 4

Authors: 9

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Institutions Share
Institute of Human Genetics, UHH, Germany 0.44
Department of Physiology and Medical Physics (DPMP), MUI, Austria 0.39
Children's Hospital Hamburg, UHH, Germany 0.11
Department of Pharmacology, Physiology and Microbiology, KL, Austria 0.06