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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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Title: A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Authors: Nicolle, Romain1,2 (AUTHOR), Altin, Nami1 (AUTHOR), Siquier-Pernet, Karine1 (AUTHOR), Salignac, Sherlina1 (AUTHOR), Blanc, Pierre1,3 (AUTHOR), Munnich, Arnold3 (AUTHOR), Bole-Feysot, Christine4 (AUTHOR), Malan, Valérie1,3 (AUTHOR), Caron, Barthélémy2 (AUTHOR), Nitschké, Patrick5 (AUTHOR), Desguerre, Isabelle6 (AUTHOR), Boddaert, Nathalie7 (AUTHOR), Rio, Marlène1,3 (AUTHOR), Rausell, Antonio2,3 (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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Description
ISSN:17558794
DOI:10.1186/s12920-023-01582-z