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- W3090606988 abstract "American Journal of Medical Genetics Part AVolume 182, Issue 12 p. 3064-3067 RESEARCH LETTER Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript Mamiko Yamada, Mamiko Yamada orcid.org/0000-0002-4039-8899 Center for Medical Genetics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorTatsuyuki Sokoda, Tatsuyuki Sokoda Department of Pediatrics, Shiga University of Medical Science Hospital, Shiga, JapanSearch for more papers by this authorTomoko Uehara, Tomoko Uehara orcid.org/0000-0002-1497-7686 Center for Medical Genetics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorHisato Suzuki, Hisato Suzuki Center for Medical Genetics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorToshiki Takenouchi, Toshiki Takenouchi orcid.org/0000-0002-7311-4135 Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorTatsuhiko Yagihashi, Tatsuhiko Yagihashi Center for Medical Genetics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorYoshihiro Maruo, Yoshihiro Maruo Department of Pediatrics, Shiga University of Medical Science Hospital, Shiga, JapanSearch for more papers by this authorKenjiro Kosaki, Corresponding Author Kenjiro Kosaki kkosaki@z3.keio.jp orcid.org/0000-0002-6798-8151 Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan Correspondence Kenjiro Kosaki, Center for Medical Genetics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. Email: kkosaki@z3.keio.jpSearch for more papers by this author Mamiko Yamada, Mamiko Yamada orcid.org/0000-0002-4039-8899 Center for Medical Genetics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorTatsuyuki Sokoda, Tatsuyuki Sokoda Department of Pediatrics, Shiga University of Medical Science Hospital, Shiga, JapanSearch for more papers by this authorTomoko Uehara, Tomoko Uehara orcid.org/0000-0002-1497-7686 Center for Medical Genetics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorHisato Suzuki, Hisato Suzuki Center for Medical Genetics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorToshiki Takenouchi, Toshiki Takenouchi orcid.org/0000-0002-7311-4135 Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorTatsuhiko Yagihashi, Tatsuhiko Yagihashi Center for Medical Genetics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorYoshihiro Maruo, Yoshihiro Maruo Department of Pediatrics, Shiga University of Medical Science Hospital, Shiga, JapanSearch for more papers by this authorKenjiro Kosaki, Corresponding Author Kenjiro Kosaki kkosaki@z3.keio.jp orcid.org/0000-0002-6798-8151 Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan Correspondence Kenjiro Kosaki, Center for Medical Genetics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan. Email: kkosaki@z3.keio.jpSearch for more papers by this author First published: 30 September 2020 https://doi.org/10.1002/ajmg.a.61892 Funding information: Grant-in-Aid for Early-Career Scientists by JSPS KAKENHI, Grant/Award Number: JP19K17342; Initiative on Rare and Undiagnosed Diseases from the Japan Agency for Medical Research and Development, Grant/Award Number: JP17ek0109151 Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume182, Issue12December 2020Pages 3064-3067 RelatedInformation" @default.
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- W3090606988 title "Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21 bp deletion of the transcript" @default.
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