A homozygous missense variant in CACNB4 encoding the...

PLoS Genetics 2020 / 3 Vol. 16; Iss. 3

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, Pierre, von Elsner, Leonie, Bierhals, Tatjana, Campiglio, Marta, Johannsen, Jessika, Obermair, Gerald J., Hempel, Maja, Flucher, Bernhard E., Kutsche, Kerstin, Helbig, Ingo
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Volume:
16
Language:
english
Journal:
PLOS Genetics
DOI:
10.1371/journal.pgen.1008625
Date:
March, 2020
File:
PDF, 15.20 MB
english, 2020
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