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Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
Gagunashvili, Andrey N; Ocaka, Louise; Kelberman, Daniel; Munot, Pinki; Bacchelli, Chiara; Beales, Philip L; Ganesan, Vijeya.
Afiliación
  • Gagunashvili AN; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Ocaka L; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Kelberman D; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Munot P; 2Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Bacchelli C; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Beales PL; 1GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Ganesan V; 2Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Hum Genome Var ; 6: 35, 2019.
Article en En | MEDLINE | ID: mdl-31645973
Palabras clave

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido