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Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Heyne, Henrike O; Baez-Nieto, David; Iqbal, Sumaiya; Palmer, Duncan S; Brunklaus, Andreas; May, Patrick; Johannesen, Katrine M; Lauxmann, Stephan; Lemke, Johannes R; Møller, Rikke S; Pérez-Palma, Eduardo; Scholl, Ute I; Syrbe, Steffen; Lerche, Holger; Lal, Dennis; Campbell, Arthur J; Wang, Hao-Ran; Pan, Jen; Daly, Mark J.
Afiliação
  • Heyne HO; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. hheyne@broadinstitute.org mark.daly@helsinki.fi.
  • Baez-Nieto D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Iqbal S; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Palmer DS; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 5WR36M Helsinki, Finland.
  • Brunklaus A; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • May P; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Johannesen KM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Lauxmann S; Center for Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Lemke JR; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Møller RS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Pérez-Palma E; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Scholl UI; Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow G51 4TF, UK.
  • Syrbe S; School of Medicine, University of Glasgow, Glasgow G12 8QQ, UK.
  • Lerche H; Luxembourg Centre for Systems Biomedicine, Belvaux, University of Luxembourg, 4365 Esch-sur-Alzette, Luxembourg.
  • Campbell AJ; Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, 4293 Dianalund, Denmark.
  • Wang HR; Department of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark.
  • Pan J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.
  • Daly MJ; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Sci Transl Med ; 12(556)2020 08 12.
Article em En | MEDLINE | ID: mdl-32801145
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Preparações Farmacêuticas / Canais de Cálcio Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Preparações Farmacêuticas / Canais de Cálcio Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article