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First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts |
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| Authors: | Jin‐Huan Lin,Xin‐Ying Tang,Arnaud Boulling,Wen‐Bin Zou,Emmanuelle Masson,Yann Fichou,Loann Raud,Marl ne Le Tertre,Shun‐Jiang Deng,Isabelle Berlivet,Chandran Ka,Matthew Mort,Matthew Hayden,Raphaë l Leman,Claude Houdayer,Gerald Le Gac,David N. Cooper,Zhao‐Shen Li,Claude F rec,Zhuan Liao,Jian‐Min Chen |
| Affiliation: | Jin‐Huan Lin,Xin‐Ying Tang,Arnaud Boulling,Wen‐Bin Zou,Emmanuelle Masson,Yann Fichou,Loann Raud,Marlène Le Tertre,Shun‐Jiang Deng,Isabelle Berlivet,Chandran Ka,Matthew Mort,Matthew Hayden,Raphaël Leman,Claude Houdayer,Gerald Le Gac,David N. Cooper,Zhao‐Shen Li,Claude Férec,Zhuan Liao,Jian‐Min Chen |
| Abstract: | |
| Keywords: | canonical 5′ splice site full‐length gene splicing assay genotype and phenotype relationship human gene mutation database human inherited disease noncanonical splice donor site |