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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.
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair GJ, Hempel M, Flucher BE, Kutsche K. Coste de Bagneaux P, et al. Among authors: obermair gj. PLoS Genet. 2020 Mar 16;16(3):e1008625. doi: 10.1371/journal.pgen.1008625. eCollection 2020 Mar. PLoS Genet. 2020. PMID: 32176688 Free PMC article.
The role of auxiliary dihydropyridine receptor subunits in muscle.
Flucher BE, Obermair GJ, Tuluc P, Schredelseker J, Kern G, Grabner M. Flucher BE, et al. Among authors: obermair gj. J Muscle Res Cell Motil. 2005;26(1):1-6. doi: 10.1007/s10974-005-9000-2. Epub 2005 Oct 14. J Muscle Res Cell Motil. 2005. PMID: 16088377 Review.
69 results