Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
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| Description | scientific article |
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author: Renata Toscano Simoes Fernanda Porto Rui Chen Juliana M F Sallum Fabiana L Motta Robert Koenekoop |
| Publication date | August 18, 2017 |
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