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Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue.
Haque, Bushra; Cheerie, David; Birkadze, Saba; Xu, Alice Linyan; Nalpathamkalam, Thomas; Thiruvahindrapuram, Bhooma; Walker, Susan; Costain, Gregory.
Affiliation
  • Haque B; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON, Canada.
  • Cheerie D; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Birkadze S; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON, Canada.
  • Xu AL; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Nalpathamkalam T; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON, Canada.
  • Thiruvahindrapuram B; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Walker S; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Costain G; The Centre for Applied Genomics (TCAG), SickKids Research Institute, Toronto, ON, Canada.
Eur J Hum Genet ; 32(2): 238-242, 2024 Feb.
Article in En | MEDLINE | ID: mdl-38012313
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Full text: 1 Database: MEDLINE Main subject: Codon, Nonsense / Genomics Limits: Humans / Newborn Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2024 Type: Article Affiliation country: Canada
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Full text: 1 Database: MEDLINE Main subject: Codon, Nonsense / Genomics Limits: Humans / Newborn Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2024 Type: Article Affiliation country: Canada