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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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Dettagli Bibliografici
Pubblicato in:Hum Mutat
Autori principali: Wimmer, Katharina, Schamschula, Esther, Wernstedt, Annekatrin, Traunfellner, Pia, Amberger, Albert, Zschocke, Johannes, Kroisel, Peter, Chen, Yunjia, Callens, Tom, Messiaen, Ludwine
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
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Accesso online: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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