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Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Myers, Scott J; Yuan, Hongjie; Perszyk, Riley E; Zhang, Jing; Kim, Sukhan; Nocilla, Kelsey A; Allen, James P; Bain, Jennifer M; Lemke, Johannes R; Lal, Dennis; Benke, Timothy A; Traynelis, Stephen F.
Afiliação
  • Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Yuan H; The Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Perszyk RE; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Zhang J; The Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Kim S; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Nocilla KA; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Allen JP; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Bain JM; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Lemke JR; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Lal D; The Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Benke TA; Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Traynelis SF; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
Hum Mol Genet ; 32(19): 2857-2871, 2023 09 16.
Article em En | MEDLINE | ID: mdl-37369021
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de N-Metil-D-Aspartato / Doenças do Sistema Nervoso Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de N-Metil-D-Aspartato / Doenças do Sistema Nervoso Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article