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Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.

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Title: Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.
Authors: Hwang S; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea., Bae H; Department of Pediatrics, Kyungpook National University Children's Hospital, School of Medicine, Kyungpook National University, Daegu, Republic of Korea., Kim D; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Yum MS; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kim MJ; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Yoon JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kim JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Seo GH; 3billion, Inc, Seoul, Republic of Korea., Kim GH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea., Do H; Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kim S; Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea., Jin HK; Department of Laboratory Animal Medicine, College of Veterinary Medicine, Kyungpook National University, Daegu, Republic of Korea., Bae JS; Department of Physiology, Cell and Matrix Research Institute, School of Medicine, Kyungpook National University, Daegu, Republic of Korea., Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea. bhlee@amc.seoul.kr.; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. bhlee@amc.seoul.kr.
Source: Journal of human genetics [J Hum Genet] 2026 Mar; Vol. 71 (3), pp. 151-159. Date of Electronic Publication: 2025 Oct 29.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Hwang+S%22">Hwang S</searchLink>; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Bae+H%22">Bae H</searchLink>; Department of Pediatrics, Kyungpook National University Children's Hospital, School of Medicine, Kyungpook National University, Daegu, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+D%22">Kim D</searchLink>; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Yum+MS%22">Yum MS</searchLink>; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+MJ%22">Kim MJ</searchLink>; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Yoon+JH%22">Yoon JH</searchLink>; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+JH%22">Kim JH</searchLink>; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Seo+GH%22">Seo GH</searchLink>; 3billion, Inc, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+GH%22">Kim GH</searchLink>; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Do+H%22">Do H</searchLink>; Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+S%22">Kim S</searchLink>; Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jin+HK%22">Jin HK</searchLink>; Department of Laboratory Animal Medicine, College of Veterinary Medicine, Kyungpook National University, Daegu, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Bae+JS%22">Bae JS</searchLink>; Department of Physiology, Cell and Matrix Research Institute, School of Medicine, Kyungpook National University, Daegu, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+BH%22">Lee BH</searchLink>; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea. bhlee@amc.seoul.kr.; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea. bhlee@amc.seoul.kr.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 Mar; Vol. 71 (3), pp. 151-159. <i>Date of Electronic Publication: </i>2025 Oct 29.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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              Text: 2026 Mar
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