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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
Research output: Contribution to journal › Article › peer-review
6
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(Scopus)