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Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis.
Naseer, Muhammad Imran; Abdulkareem, Angham Abdulrahman; Guzmán-Vega, Francisco J; Arold, Stefan T; Pushparaj, Peter Natesan; Chaudhary, Adeel G; AlQahtani, Mohammad H.
Afiliación
  • Naseer MI; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Abdulkareem AA; Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Guzmán-Vega FJ; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Arold ST; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
  • Pushparaj PN; Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France.
  • Chaudhary AG; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
  • AlQahtani MH; Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France.
Front Genet ; 11: 368, 2020.
Article en En | MEDLINE | ID: mdl-32457794

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Genet Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Genet Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita