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Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.
Ittiwut, Chupong; Poonmaksatit, Sathida; Boonsimma, Ponghatai; Desudchit, Tayard; Suphapeetiporn, Kanya; Ittiwut, Rungnapa; Shotelersuk, Vorasuk.
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  • Ittiwut C; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 1033
  • Poonmaksatit S; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
  • Boonsimma P; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 1033
  • Desudchit T; Division of Neurology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
  • Suphapeetiporn K; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 1033
  • Ittiwut R; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 1033
  • Shotelersuk V; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 1033
Brain Dev ; 43(3): 490-494, 2021 Mar.
Article en En | MEDLINE | ID: mdl-33190975
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ATPasas de Translocación de Protón Vacuolares / Epilepsia / Discapacidad Intelectual Límite: Female / Humans Idioma: En Revista: Brain Dev Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: ATPasas de Translocación de Protón Vacuolares / Epilepsia / Discapacidad Intelectual Límite: Female / Humans Idioma: En Revista: Brain Dev Año: 2021 Tipo del documento: Article