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Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Publication

Date: 22nd July 2019 | Source: Nature Genetics

Authors: Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama, Yutaka Kohno, Yoshihisa Takiyama, Kengo Maeda, Hiroshi Doi, Shigeru Koyano, Hideyuki Takeuchi, Michi Kawamoto, Nobuo Kohara, Tetsuo Ando, Toshiaki Ieda, Yasushi Kita, Norito Kokubun, Yoshio Tsuboi, Masahisa Katsuno, Yasushi Iwasaki, Mari Yoshida, Fumiaki Tanaka, Ikuo K Suzuki, Martin C Frith, Naomichi Matsumoto, Gen Sobue.

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