Title: De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Authors: 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
Journal: J Hum Genet
Published: 2016-01-14