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PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam, Sugi; Wang, Julia; Zhu, Wenmiao; Dai, Hongzheng; Pappas, John G; Rabin, Rachel; Low, Karen J; Rosenfeld, Jill A; Emrick, Lisa; Xiao, Rui; Xia, Fan; Yang, Yaping; Eng, Christine M; Anderson, Anne; Chau, Vann; Soler-Alfonso, Claudia; Streff, Haley; Lalani, Seema R; Mercimek-Andrews, Saadet; Bi, Weimin.
  • Panneerselvam S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Wang J; Medical Scientist Training Program and Developmental Biology, Baylor College of Medicine, Houston, Texas, USA.
  • Zhu W; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Pappas JG; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Rabin R; Department of Pediatrics, Clinical Genetic Services, NYU School of Medicine, New York, New York, USA.
  • Low KJ; Department of Pediatrics, Clinical Genetic Services, NYU School of Medicine, New York, New York, USA.
  • Rosenfeld JA; University Hospital Bristol NHS Foundation Trust, Bristol, UK.
  • Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Xiao R; Texas Children's Hospital, Houston, Texas, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Yang Y; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Anderson A; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Chau V; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Soler-Alfonso C; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lalani SR; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Mercimek-Andrews S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Clin Genet ; 100(2): 227-233, 2021 08.
Article en En | MEDLINE | ID: mdl-33963760
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Calcineurina / Epilepsia / Mutación Tipo de estudio: Etiology_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Calcineurina / Epilepsia / Mutación Tipo de estudio: Etiology_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article