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. |
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| 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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