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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-31645973
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Hum Genome Var Year: 2019 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Hum Genome Var Year: 2019 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom