De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia
Fukai, Ryoko, Saitsu, Hirotomo, Okamoto, Nobuhiko, Sakai, Yasunari, Fattal-Valevski, Aviva, Masaaki, Shiina, Kitai, Yukihiro, Torio, Michiko, Kojima-Ishii, Kanako, Ihara, Kenji, Chernuha, Veronika, NaLanguage:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2015.163
Date:
January, 2016
File:
PDF, 808 KB
english, 2016