Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
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Am J Hum Genet. 2024 Apr 4;111(4):761-777. doi: 10.1016/j.ajhg.2024.02.014. Epub 2024 Mar 18.
Am J Hum Genet. 2024.
PMID: 38503299