Article

5’ splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicity

2019-11-02

Abstract excerpt

<h4>ABSTRACT</h4> In the human genome, most 5’ splice sites (~99%) employ the canonical GT dinucleotide whereas a small minority (~1%) use the non-canonical GC dinucleotide. The functionality and pathogenicity of 5’ splice site GT>GC (i.e., +2T>C) variants have been extensively studied but we still know very little about 5’ splice site GC>GT (+2C>T) variants. Herein, we sought to address this deficiency by perfor...

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Literature Corpus work: bb6ae553-1481-5059-924d-2f1b87f201a9
DOI: 10.1101/829010

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