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Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
McGlaughon, Jennifer L; Pasquali, Marzia; Wallace, Kathleen; Ross, Justyne; Senol-Cosar, Ozlem; Shen, Wei; Weaver, Meredith A; Feigenbaum, Annette; Lyon, Elaine; Enns, Gregory M; Mao, Rong; Baudet, Heather G.
Afiliação
  • McGlaughon JL; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • Pasquali M; University of Utah and ARUP Laboratories, Salt Lake City, UT, USA.
  • Wallace K; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • Ross J; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • Senol-Cosar O; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA; Department of Pathology, Harvard Medical School/Brigham and Women's Hospital, Boston, MA, USA.
  • Shen W; University of Utah and ARUP Laboratories, Salt Lake City, UT, USA.
  • Weaver MA; American College of Medical Genetics and Genomics, Bethesda, MD, USA.
  • Feigenbaum A; Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
  • Lyon E; University of Utah and ARUP Laboratories, Salt Lake City, UT, USA.
  • Enns GM; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA.
  • Mao R; University of Utah and ARUP Laboratories, Salt Lake City, UT, USA.
  • Baudet HG; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA. Electronic address: hbaudet@email.unc.edu.
Mol Genet Metab ; 128(1-2): 122-128, 2019.
Article em En | MEDLINE | ID: mdl-31399326

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Ácidos Graxos / Erros Inatos do Metabolismo Lipídico Tipo de estudo: Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Ácidos Graxos / Erros Inatos do Metabolismo Lipídico Tipo de estudo: Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos