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

Mariko Okubo; Satoru Noguchi; Tomonari Awaya; Motoyasu Hosokawa; Nobue Tsukui; Megumu Ogawa; Shinichiro Hayashi; Hirofumi Komaki; Madoka Mori-Yoshimura; Yasushi Oya; Yuji Takahashi; Tetsuhiro Fukuyama; Michinori Funato; Yousuke Hosokawa; Satoru Kinoshita; Tsuyoshi Matsumura; Sadao Nakamura; Azusa Oshiro; Hiroshi Terashima; Tetsuro Nagasawa; Tatsuharu Sato; Yumi Shimada; Yasuko Tokita; Masatoshi Hagiwara; Katsuhisa Ogata; Ichizo Nishino
Human Genetics · Vol. 142, Issue 1 · pp. 59-71 · 2023

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2023-01-01
Publication Year2023
Volume142
Issue1
Pages59-71
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-022-02485-2

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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