bibliographicCitation |
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. De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. Journal of Human Genetics. 2016 Jan 14;61(5):451–5. doi: 10.1038/jhg.2015.163. |