论文信息 - An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome - 字舞流文

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

K. Okamura | Y. Matsubara | T. Kaname | K. Yanagi | Y. Katoh-Fukui | A. Nakamura | S. Yatsuga | M. Fukami | H. Shima | Atsushi Hattori | Manami Iso