Genome-wide detection of human variants that disrupt intronic branchpoints

Pre-messenger RNA splicing is initiated with the recognition of a single-nucleotide intronic branchpoint (BP) within a BP motif by spliceosome elements. Forty-eight rare variants in 43 human genes have been reported to alter splicing and cause disease by disrupting BP. However, until now, no computa...

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Detalles Bibliográficos
Autores principales: Zhang, Peng, Philippot, Quentin, Ren, Weicheng, Lei, Wei-Te, Li, Juan, Stenson, Peter D., Palacín, Pere Soler, Colobran, Roger, Boisson, Bertrand, Zhang, Shen-Ying, Puel, Anne, Pan-Hammarström, Qiang, Zhang, Qian, Cooper, David N., Abel, Laurent, Casanova, Jean-Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636908/
https://www.ncbi.nlm.nih.gov/pubmed/36306325
http://dx.doi.org/10.1073/pnas.2211194119

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