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Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy.

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Title: Integrated targeted whole-genome and RNA-sequencing analysis of an intronic GNE variant in GNE myopathy.
Authors: Toide N; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan., Iwase R; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan., Yanagidaira M; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; NucleoTIDE and PepTIDE Drug Discovery Center, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan., Togi S; Center for Clinical Genomics, Kanazawa Medical University Hospital, Uchinada, Ishikawa, Japan., Ura H; Center for Clinical Genomics, Kanazawa Medical University Hospital, Uchinada, Ishikawa, Japan., Egawa M; Department of Medical Genetics, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; Department of Nutrition and Metabolism in Cardiovascular Disease, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan., Takamine E; Department of Medical Genetics, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; Department of Precision Cancer Medicine, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan., Kuwahara H; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; NucleoTIDE and PepTIDE Drug Discovery Center, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan., Misawa S; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan., Yoshida M; Department of Medical Genetics, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; Department of Life Science and Bioethics, Graduate School of Medicine, Institute of Science Tokyo, Bunkyo-ku, Tokyo, Japan., Niida Y; Center for Clinical Genomics, Kanazawa Medical University Hospital, Uchinada, Ishikawa, Japan., Ishiguro T; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan. ishiguro.nuro@tmd.ac.jp.
Source: Human genome variation [Hum Genome Var] 2026 Jun 10. Date of Electronic Publication: 2026 Jun 10.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101652445 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2054-345X (Print) Linking ISSN: 2054345X NLM ISO Abbreviation: Hum Genome Var
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Toide+N%22">Toide N</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Iwase+R%22">Iwase R</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Yanagidaira+M%22">Yanagidaira M</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; NucleoTIDE and PepTIDE Drug Discovery Center, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Togi+S%22">Togi S</searchLink>; Center for Clinical Genomics, Kanazawa Medical University Hospital, Uchinada, Ishikawa, Japan.<br /><searchLink fieldCode="AU" term="%22Ura+H%22">Ura H</searchLink>; Center for Clinical Genomics, Kanazawa Medical University Hospital, Uchinada, Ishikawa, Japan.<br /><searchLink fieldCode="AU" term="%22Egawa+M%22">Egawa M</searchLink>; Department of Medical Genetics, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; Department of Nutrition and Metabolism in Cardiovascular Disease, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Takamine+E%22">Takamine E</searchLink>; Department of Medical Genetics, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; Department of Precision Cancer Medicine, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kuwahara+H%22">Kuwahara H</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; NucleoTIDE and PepTIDE Drug Discovery Center, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Misawa+S%22">Misawa S</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Yoshida+M%22">Yoshida M</searchLink>; Department of Medical Genetics, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan.; Department of Life Science and Bioethics, Graduate School of Medicine, Institute of Science Tokyo, Bunkyo-ku, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Niida+Y%22">Niida Y</searchLink>; Center for Clinical Genomics, Kanazawa Medical University Hospital, Uchinada, Ishikawa, Japan.<br /><searchLink fieldCode="AU" term="%22Ishiguro+T%22">Ishiguro T</searchLink>; Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Bunkyo-Ku, Tokyo, Japan. ishiguro.nuro@tmd.ac.jp.
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              Text: 2026 Jun 10
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