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Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population.
Bundalian, Linnaeus; Su, Yin-Yuan; Chen, Siwei; Velluva, Akhil; Kirstein, Anna Sophia; Garten, Antje; Biskup, Saskia; Battke, Florian; Lal, Dennis; Heyne, Henrike O; Platzer, Konrad; Lin, Chen-Ching; Lemke, Johannes R; Le Duc, Diana.
Afiliación
  • Bundalian L; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany. Electronic address: linnaeusbundalian@gmail.com.
  • Su YY; Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan.
  • Chen S; Analytic and Translational Genetics Unit, Department of Medicine, Boston, MA, USA; Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Velluva A; Division of General Biochemistry, Rudolf Schönheimer Institute of Biochemistry, Medical Faculty, Leipzig University, 04103 Leipzig, Germany; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany.
  • Kirstein AS; Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103 Leipzig, Germany.
  • Garten A; Pediatric Research Center, University Hospital for Children and Adolescents, Leipzig University, 04103 Leipzig, Germany.
  • Biskup S; CeGaT GmbH, 72076 Tuebingen, Germany; Hertie-Institute for Clinical Brain Research, 72070 Tubingen, Germany.
  • Battke F; CeGaT GmbH, 72076 Tuebingen, Germany.
  • Lal D; Analytic and Translational Genetics Unit, Department of Medicine, Boston, MA, USA; Massachusetts General Hospital, Boston, MA 02114, USA; Cologne Center for Genomics, University of Cologne, 50937 Cologne, Germany.
  • Heyne HO; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Hasso-Plattner-Institut for Digital Engineering, University of Potsdam, Potsdam, Germany; Hasso Plattner Institute at Mount Sinai, Mount Sinai School of Medicine, New York, NY, USA; Institute for Mole
  • Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Lin CC; Institute of Biomedical Informatics, National Yang Ming Chiao Tung University, Taipei, Taiwan.
  • Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Le Duc D; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany; Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany. Electronic address: diana_leduc@eva.mpg.de.
Am J Hum Genet ; 110(7): 1110-1122, 2023 07 06.
Article en En | MEDLINE | ID: mdl-37369202
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos