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Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

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Title: Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.
Authors: Khang R; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Lee H; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Kim J; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Moon D; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Jang S; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Lee E; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Song Y; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Ryu SW; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Lee S; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Han H; Research and Development Center, 3billion Inc., Seoul, Republic of Korea., Kim S; Research and Development Center, 3billion Inc., Seoul, Republic of Korea., Jang S; Research and Development Center, 3billion Inc., Seoul, Republic of Korea., Sohn YB; Rare Disease Center of Southern Gyeonggi Region, Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of Korea., Kim WS; Rare Disease Center of Chungbuk Region, Department of Pediatrics, Chungbuk National University Hospital, Cheongju, Republic of Korea., Lee JE; Rare Disease Center of Northwestern Gyeonggi Province, Department of Pediatrics, Inha University Hospital, Incheon, Republic of Korea., Kim J; Rare Disease Center of Gangwon Region, Yonsei University Wonju College of Medicine, Wonju Severance Christian Hospital, Wonju, Republic of Korea., Cho Y; Jeonbuk Regional Center for Rare Diseases, Department of Laboratory Medicine, Jeonbuk National University Hospital, Jeonju, Republic of Korea., Lee BL; Rare Disease Center of Busan Region, Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea., Lim HH; Rare Disease Center of Chungnam Region, Department of Pediatrics, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon, Republic of Korea., Kook H; Rare Disease Center of Chonnam Region, Department of Pediatrics, Chonnam National University Hwasun Hospital, Gwangju, Republic of Korea., Kang KS; Rare Disease Center of Jeju Region, Department of Pediatrics, Jeju National University Hospital, Jeju National University College of Medicine, Jeju, Republic of Korea., Kwon S; Rare Disease Center for Daegu/Gyeongbuk Region and Department of Pediatrics, Kyungpook National University Children's Hospital and School of Medicine, Kyungpook National University, Daegu, Republic of Korea., Lee J; Division of Rare Disease Management, Korea Disease Control and Prevention Agency, Cheongju, Republic of Korea., Seo GH; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea., Oh SH; Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea., Cheon CK; Rare Disease Center of Gyeongnam Region, Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.
Source: Human mutation [Hum Mutat] 2025 Feb 27; Vol. 2025, pp. 6096758. Date of Electronic Publication: 2025 Feb 27 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.
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  Data: <searchLink fieldCode="AU" term="%22Khang+R%22">Khang R</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+H%22">Lee H</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Moon+D%22">Moon D</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jang+S%22">Jang S</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+E%22">Lee E</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Song+Y%22">Song Y</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Ryu+SW%22">Ryu SW</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+S%22">Lee S</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Han+H%22">Han H</searchLink>; Research and Development Center, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+S%22">Kim S</searchLink>; Research and Development Center, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Jang+S%22">Jang S</searchLink>; Research and Development Center, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Sohn+YB%22">Sohn YB</searchLink>; Rare Disease Center of Southern Gyeonggi Region, Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+WS%22">Kim WS</searchLink>; Rare Disease Center of Chungbuk Region, Department of Pediatrics, Chungbuk National University Hospital, Cheongju, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+JE%22">Lee JE</searchLink>; Rare Disease Center of Northwestern Gyeonggi Province, Department of Pediatrics, Inha University Hospital, Incheon, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kim+J%22">Kim J</searchLink>; Rare Disease Center of Gangwon Region, Yonsei University Wonju College of Medicine, Wonju Severance Christian Hospital, Wonju, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Cho+Y%22">Cho Y</searchLink>; Jeonbuk Regional Center for Rare Diseases, Department of Laboratory Medicine, Jeonbuk National University Hospital, Jeonju, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+BL%22">Lee BL</searchLink>; Rare Disease Center of Busan Region, Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lim+HH%22">Lim HH</searchLink>; Rare Disease Center of Chungnam Region, Department of Pediatrics, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kook+H%22">Kook H</searchLink>; Rare Disease Center of Chonnam Region, Department of Pediatrics, Chonnam National University Hwasun Hospital, Gwangju, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kang+KS%22">Kang KS</searchLink>; Rare Disease Center of Jeju Region, Department of Pediatrics, Jeju National University Hospital, Jeju National University College of Medicine, Jeju, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Kwon+S%22">Kwon S</searchLink>; Rare Disease Center for Daegu/Gyeongbuk Region and Department of Pediatrics, Kyungpook National University Children's Hospital and School of Medicine, Kyungpook National University, Daegu, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; Division of Rare Disease Management, Korea Disease Control and Prevention Agency, Cheongju, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Seo+GH%22">Seo GH</searchLink>; Medical Genetics Division, 3billion Inc., Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Oh+SH%22">Oh SH</searchLink>; Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Cheon+CK%22">Cheon CK</searchLink>; Rare Disease Center of Gyeongnam Region, Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Republic of Korea.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2025 Feb 27; Vol. 2025, pp. 6096758. <i>Date of Electronic Publication: </i>2025 Feb 27 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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        Value: 10.1155/humu/6096758
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        Text: English
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