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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

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第一作者： Zastrow Diane B.

作者： Zastrow Diane B. ^[1] ; Baudet Heather ^[2] ; Shen Wei ^[3] ; Thomas Amanda ^[4] ; Si Yue ^[5] ; Weaver Meredith A. ^[6] ; Lager Angela M. ^[7] ; Liu Jixia ^[8] ; Mangels Rachel ^[9] ; Dwight Selina S. ^[10] ; Wright Matt W. ^[11] ; Dobrowolski Steven F. ^[12] ; Eilbeck Karen ^[13] ; Enns Gregory M. ^[14] ; Feigenbaum Annette ^[15] ; Lichter‐Konecki Uta ; Lyon Elaine ; Pasquali Marzia ; Watson Michael ; Blau Nenad ; Steiner Robert D. ; Craigen William J. ; Mao Rong ; ClinGen Inborn Errors of Metabolism Working Group

作者单位： Department of Pathology and Cell BiologyColumbia University Irving Medical CenterNew York,New York ^[1] American College of Medical Genetics and Genomics, Bethesda, Maryland ^[2] University of Utah, Salt Lake City, Utah ^[3] Children's Hospital of Pittsburg of UPMCUniversity of PittsburghPittsburgh,Pennsylvania ^[4] ARUP LaboratoriesSalt Lake City,Utah ^[5] University of Pittsburgh Medical CenterPittsburgh,Pennsylvania ^[6] Marshfield Clinic Research InstituteMarshfield,Wisconsin ^[7] University of North CarolinaChapel Hill,North Carolina ^[8] GeneDxGaithersburg,Maryland ^[9] Stanford UniversityStanfordCalifornia ^[10] Baylor College of MedicineHouston,Texas ^[11] Rady Children's Hospital and University of CaliforniaSan Diego,California ^[12] Dietmar‐Hopp Metabolic CenterDepartment of General PediatricsHeidelberg,Germany ^[13] Palo Alto Medical FoundationPalo AltoCalifornia ^[14] Section of Hematology/OncologyUniversity of ChicagoChicago,Illinois ^[15]

关键词 ClinGen inborn errors of metabolism PAH deficiency phenylalanine hydroxylase variant interpretation

发布时间 2019-03-17

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