A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

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

doi:10.1186/s12920-023-01582-z

BMC Medical Genomics

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Last updated: Sun, 2 Jun 2024 4:32:08 Z

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

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ISSN: 1755-8794

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