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

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Title: Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
Authors: Sone, Jun, Mitsuhashi, Satomi, Fujita, Atsushi, Mizuguchi, Takeshi, Hamanaka, Kohei, Mori, Keiko, Koike, Haruki, Hashiguchi, Akihiro, Takashima, Hiroshi, Sugiyama, Hiroshi, Kohno, Yutaka, Takiyama, Yoshihisa, Maeda, Kengo, Doi, Hiroshi, Koyano, Shigeru, Takeuchi, Hideyuki, Kawamoto, Michi, Kohara, Nobuo, Ando, Tetsuo, Ieda, Toshiaki, Kita, Yasushi, Kokubun, Norito, Tsuboi, Yoshio, Katoh, Kazutaka, Kino, Yoshihiro, Katsuno, Masahisa, Iwasaki, Yasushi, Yoshida, Mari, Tanaka, Fumiaki, Suzuki, Ikuo, Frith, Martin, Matsumoto, Naomichi, Sobue, Gen
Source: Nature genetics. 51(8):1215-1221
Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185662457.0x000001&indx=1&recIds=ETOCvdc_100185662457.0x000001
Database: British Library Document Supply Centre Inside Serials & Conference Proceedings
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ISSN:10614036
Published in:Nature genetics
Language:English