Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays

Combining data derived from a meta-analysis of human disease-associated 5′ splice site GT>GC (i.e., +2T>C) variants and a cell culture-based full-length gene splicing assay (FLGSA) of forward engineered +2T>C substitutions, we recently estimated that ∼15–18% of +2T>C variants can generat...

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Detalles Bibliográficos
Autores principales: Lin, Jin-Huan, Wu, Hao, Zou, Wen-Bin, Masson, Emmanuelle, Fichou, Yann, Le Gac, Gerald, Cooper, David N., Férec, Claude, Liao, Zhuan, Chen, Jian-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8375439/
https://www.ncbi.nlm.nih.gov/pubmed/34422003
http://dx.doi.org/10.3389/fgene.2021.701652

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