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The Global ALPL gene variant classification project: Dedicated to deciphering variants.

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Title: The Global ALPL gene variant classification project: Dedicated to deciphering variants.
Authors: Farman MR; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Rehder C; Duke University Medical Center, Department of Pathology, Durham, USA., Malli T; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Linz, Austria., Rockman-Greenberg C; Department of Pediatrics and Child Health Max Rady College of Medicine, Rady Faculty of Health Sciences, Winnipeg, Canada., Dahir K; Vanderbilt University Medical Center, Program for Metabolic Bone Disorders, Nashville, TN, USA., Martos-Moreno GÁ; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain; CIBER Fisiopatología de la Obesidad y Nutrición, ISCIII, Madrid, Spain, Linglart A; AP-HP, Paris Saclay University, INSERM, Bicêtre Paris Saclay hospital, Le Kremlin-Bicêtre, France, Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan, Seefried L; Julius-Maximilian University, Würzburg, Germany., Del Angel G; Alexion, AstraZeneca Rare Disease, Boston, MA, USA, Webersinke G; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Linz, Austria., Barbazza F; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., John LK; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Delana Mudiyanselage SMA; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Högler F; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Nading EB; Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, USA, Huggins E; Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, USA, Rush ET; Division of Clinical Genetics, Children's Mercy Hospital Kansas City, Kansas City, MO, USA; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA; Department of Pediatrics, University of Missouri – Kansas City School of Medicine, Kansas City, MO, USA, El-Gazzar A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Kishnani PS; Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, USA, Högler W; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
Source: Bone [Bone] 2024 Jan; Vol. 178, pp. 116947. Date of Electronic Publication: 2023 Oct 26.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Farman+MR%22">Farman MR</searchLink>; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Rehder+C%22">Rehder C</searchLink>; Duke University Medical Center, Department of Pathology, Durham, USA.<br /><searchLink fieldCode="AU" term="%22Malli+T%22">Malli T</searchLink>; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Rockman-Greenberg+C%22">Rockman-Greenberg C</searchLink>; Department of Pediatrics and Child Health Max Rady College of Medicine, Rady Faculty of Health Sciences, Winnipeg, Canada.<br /><searchLink fieldCode="AU" term="%22Dahir+K%22">Dahir K</searchLink>; Vanderbilt University Medical Center, Program for Metabolic Bone Disorders, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Martos-Moreno+GÁ%22">Martos-Moreno GÁ</searchLink>; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain; CIBER Fisiopatología de la Obesidad y Nutrición, ISCIII, Madrid, Spain<br /><searchLink fieldCode="AU" term="%22Linglart+A%22">Linglart A</searchLink>; AP-HP, Paris Saclay University, INSERM, Bicêtre Paris Saclay hospital, Le Kremlin-Bicêtre, France<br /><searchLink fieldCode="AU" term="%22Ozono+K%22">Ozono K</searchLink>; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan<br /><searchLink fieldCode="AU" term="%22Seefried+L%22">Seefried L</searchLink>; Julius-Maximilian University, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Del+Angel+G%22">Del Angel G</searchLink>; Alexion, AstraZeneca Rare Disease, Boston, MA, USA<br /><searchLink fieldCode="AU" term="%22Webersinke+G%22">Webersinke G</searchLink>; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Barbazza+F%22">Barbazza F</searchLink>; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22John+LK%22">John LK</searchLink>; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Delana+Mudiyanselage+SMA%22">Delana Mudiyanselage SMA</searchLink>; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Högler+F%22">Högler F</searchLink>; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Nading+EB%22">Nading EB</searchLink>; Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, USA<br /><searchLink fieldCode="AU" term="%22Huggins+E%22">Huggins E</searchLink>; Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, USA<br /><searchLink fieldCode="AU" term="%22Rush+ET%22">Rush ET</searchLink>; Division of Clinical Genetics, Children's Mercy Hospital Kansas City, Kansas City, MO, USA; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA; Department of Pediatrics, University of Missouri – Kansas City School of Medicine, Kansas City, MO, USA<br /><searchLink fieldCode="AU" term="%22El-Gazzar+A%22">El-Gazzar A</searchLink>; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Kishnani+PS%22">Kishnani PS</searchLink>; Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, USA<br /><searchLink fieldCode="AU" term="%22Högler+W%22">Högler W</searchLink>; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.
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  Data: <searchLink fieldCode="JN" term="%228504048%22">Bone</searchLink> [Bone] 2024 Jan; Vol. 178, pp. 116947. <i>Date of Electronic Publication: </i>2023 Oct 26.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Science%22">Elsevier Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8504048 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-2763 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2218732763%22">18732763 </searchLink><i>NLM ISO Abbreviation: </i>Bone <i>Subsets: </i>MEDLINE
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