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  1. 1
    NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans

    NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans by Barthélémy Caron, Yufei Luo, Antonio Rausell

    Published 2019-02-01
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  2. 2
    A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

    A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia by Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel

    Published 2023-06-01
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