GeneticsHuman MutationPeer-reviewed
First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications
Jin‐Huan Lin, Xin‐Ying Tang, Arnaud Boulling…·Jian‐Min Chen
The paper estimates that 15-18% of canonical GT 5' splice sites can generate wild-type transcripts when mutated to GC, with implications for disease and splicing mechanisms.
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