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Characterization of a de novo CHD7 mutation at the exon/intron junction in a patient with CHARGE syndrome
Characterization of a de novo CHD7 mutation at the exon/intron junction in a patient with CHARGE syndrome
2017
Yuko Katoh-Fukui
Shuichi Yatsuga
Hirohito Shima
Atsushi Hattori
Akie Nakamura
Kohji Okamura
Kumiko Yanagi
Manami Iso
Tadashi Kaname
Yoichi Matsubara
Maki Fukami
Keywords:
Exon
CHARGE syndrome
Genetics
Biology
Intron
Mutation
exon intron
Molecular biology
Correction
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