Article

First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

2018-11-27

Abstract excerpt

<h4>ABSTRACT</h4> It has long been known that canonical 5’ splice site (5’SS) GT>GC mutations may be compatible with normal splicing. However, to date, the true scale of canonical 5’SS GT>GC mutations generating wild-type transcripts, both in the context of the frequency of such mutations and the level of wild-type transcripts generated from the mutation alleles, remain unknown. Herein, combining data derived fro...

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Literature Corpus work: dd81fd1c-073b-59e2-97b9-febcf058d523
DOI: 10.1101/479493

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