AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides

Uncovering frequent motives of action by which variants impair 3′ splice site (3′ss) recognition and selection is essential to improve our understanding of this complex process. Through several mini‐gene experiments, we demonstrate that the pyrimidine (Y) to purine (R) transversion NM_000267.3(NF1):...

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Detalles Bibliográficos
Autores principales: Wimmer, Katharina, Schamschula, Esther, Wernstedt, Annekatrin, Traunfellner, Pia, Amberger, Albert, Zschocke, Johannes, Kroisel, Peter, Chen, Yunjia, Callens, Tom, Messiaen, Ludwine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317903/
https://www.ncbi.nlm.nih.gov/pubmed/32126153
http://dx.doi.org/10.1002/humu.24005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317903/
https://www.ncbi.nlm.nih.gov/pubmed/32126153
http://dx.doi.org/10.1002/humu.24005

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