De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
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Hum Mol Genet. 2019 Sep 1;28(17):2937-2951. doi: 10.1093/hmg/ddz117.
Hum Mol Genet. 2019.
PMID: 31152168
Free PMC article.