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

6 被引用数 (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology

Pharmacology, Toxicology and Pharmaceutical Science

Neuroscience

Immunology and Microbiology