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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Wimmer, Katharina, Schamschula, Esther, Wernstedt, Annekatrin, Traunfellner, Pia, Amberger, Albert, Zschocke, Johannes, Kroisel, Peter, Chen, Yunjia, Callens, Tom, Messiaen, Ludwine
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7317903/
https://ncbi.nlm.nih.gov/pubmed/32126153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24005
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