An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome
Yuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, Atsushi Hattori, Akie Nakamura, Kohji Okamura, Kumiko Yanagi, Manami Iso, Tadashi Kaname, Yoichi Matsubara, Maki Fukami
研究成果: Article › 査読
3
被引用数
(Scopus)