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Novel PLEC variants associated with infantile cholestasis.

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Title: Novel PLEC variants associated with infantile cholestasis.
Authors: Kor-Anantakul P; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Chen HL; Department of Pediatrics, National Taiwan University College of Medicine and Children's Hospital, Taipei, Taiwan., Chen YH; Department of Pediatrics, National Taiwan University College of Medicine and Children's Hospital, Taipei, Taiwan., Ittiwut C; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Ittiwut R; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Chaijitraruch N; Division of Gastroenterology and Hepatology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand., Suphapeetiporn K; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand., Chongsrisawat V; Division of Gastroenterology and Hepatology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Source: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 769-775. Date of Electronic Publication: 2024 Aug 21.
Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel PLEC variants associated with infantile cholestasis.
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  Data: <searchLink fieldCode="AU" term="%22Kor-Anantakul+P%22">Kor-Anantakul P</searchLink>; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Chen+HL%22">Chen HL</searchLink>; Department of Pediatrics, National Taiwan University College of Medicine and Children's Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+YH%22">Chen YH</searchLink>; Department of Pediatrics, National Taiwan University College of Medicine and Children's Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Ittiwut+C%22">Ittiwut C</searchLink>; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Ittiwut+R%22">Ittiwut R</searchLink>; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Chaijitraruch+N%22">Chaijitraruch N</searchLink>; Division of Gastroenterology and Hepatology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Suphapeetiporn+K%22">Suphapeetiporn K</searchLink>; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Chongsrisawat+V%22">Chongsrisawat V</searchLink>; Division of Gastroenterology and Hepatology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 769-775. <i>Date of Electronic Publication: </i>2024 Aug 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39168815
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        Value: 10.1111/cge.14611
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        Text: English
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              Text: 2024 Dec
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