Journal Articles Human Genetics Year : 2022

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

Tomonari Awaya
  • Function : Author
Motoyasu Hosokawa
  • Function : Author
Nobue Tsukui
  • Function : Author
Megumu Ogawa
  • Function : Author
Madoka Mori-Yoshimura
  • Function : Author
Yasushi Oya
  • Function : Author
Tetsuhiro Fukuyama
  • Function : Author
Michinori Funato
  • Function : Author
Yousuke Hosokawa
  • Function : Author
Satoru Kinoshita
  • Function : Author
Sadao Nakamura
  • Function : Author
Azusa Oshiro
  • Function : Author
Hiroshi Terashima
  • Function : Author
Tetsuro Nagasawa
  • Function : Author
Tatsuharu Sato
  • Function : Author
Yumi Shimada
  • Function : Author
Yasuko Tokita
  • Function : Author
Masatoshi Hagiwara
  • Function : Author
Katsuhisa Ogata
  • Function : Author
Ichizo Nishino
  • Function : Author
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Dates and versions

hal-03842276 , version 1 (07-11-2022)

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Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, et al.. RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy. Human Genetics, 2022, ⟨10.1007/s00439-022-02485-2⟩. ⟨hal-03842276⟩
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