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Article

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

Human mutation - 1 Jun 2020

Wimmer Katharina, Schamschula Esther, Wernstedt Annekatrin, Traunfellner Pia, Amberger Albert, Zschocke Johannes, Kroisel Peter, Chen Yunjia, Callens Tom, Messiaen Ludwine

Abstract excerpt

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):c.1722-11T>G, although expected to weaken the polypyrimidine tract, causes exon skipping primarily by introducing a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32126153
DOI: 10.1002/humu.24005
PMCID: PMC7317903

Genes

NF1

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AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.PMID 32126153Read ↗

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