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

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 de En | MEDLINE | ID: mdl-38012313

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Codon non-sens / Génomique Limites: Humans / Newborn Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2024 Type de document: Article Pays d'affiliation: Canada Pays de publication: Royaume-Uni

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