Published in
Springer Nature [academic journals on nature.com], Human Genome Variation, 1(5), 2018
DOI: 10.1038/hgv.2018.6
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An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome
Journal article published in 2018 by
Yuko Katoh-Fukui,
Shuichi Yatsuga,
Hirohito Shima,
Atsushi Hattori,
Akie Nakamura,
Kohji Okamura 
,
Kumiko Yanagi,
Manami Iso,
Tadashi Kaname ,
Yoichi Matsubara,
Maki Fukami
,
Kumiko Yanagi,
Manami Iso,
Tadashi Kaname ,
Yoichi Matsubara,
Maki Fukami
This paper is made freely available by the publisher.
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