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Published in 2022 at "Journal of neurophysiology"
DOI: 10.1152/jn.00509.2021
Abstract: We identified six novel de novo human KCNQ5 variants in children with motor/language delay, intellectual disability (ID) and/or epilepsy by whole-exome sequencing. These variants comprised of two nonsense and four missense alterations, were functionally characterized…
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Keywords:
intellectual disability;
gof;
human kcnq5;
kcnq5 ... See more keywords