Search Results - Salignac, Sherlina

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    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 Nicolle, Romain, Altin, Nami, Siquier-Pernet, Karine, Salignac, Sherlina, Blanc, Pierre, Munnich, Arnold, Bole-Feysot, Christine, Malan, Valérie, Caron, Barthélémy, Nitschké, Patrick, Desguerre, Isabelle, Boddaert, Nathalie, Rio, Marlène, Rausell, Antonio, Cantagrel, Vincent

    Published in BMC medical genomics
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