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

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Bibliographic Details
Title:	A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Authors:	Nicolle, Romain^1,2 (AUTHOR), Altin, Nami¹ (AUTHOR), Siquier-Pernet, Karine¹ (AUTHOR), Salignac, Sherlina¹ (AUTHOR), Blanc, Pierre^1,3 (AUTHOR), Munnich, Arnold³ (AUTHOR), Bole-Feysot, Christine⁴ (AUTHOR), Malan, Valérie^1,3 (AUTHOR), Caron, Barthélémy² (AUTHOR), Nitschké, Patrick⁵ (AUTHOR), Desguerre, Isabelle⁶ (AUTHOR), Boddaert, Nathalie⁷ (AUTHOR), Rio, Marlène^1,3 (AUTHOR), Rausell, Antonio^2,3 (AUTHOR), Cantagrel, Vincent¹ (AUTHOR) vincent.cantagrel@inserm.fr
Source:	BMC Medical Genomics. 6/21/2023, Vol. 16 Issue 1, p1-10. 10p.
Database:	Academic Search Ultimate
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