De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N.
Fukai R, et al. Among authors: chernuha v.
J Hum Genet. 2016 May;61(5):451-5. doi: 10.1038/jhg.2015.163. Epub 2016 Jan 14.
J Hum Genet. 2016.
PMID: 26763878