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

Document Type

Article

Author

Nicolle, R.; Altin, N.; Siquier-Pernet, K.; Salignac, S.; Blanc, P.; Malan, V.; Rio, M.; Cantagrel, V.; Caron, B.; Rausell, A.; Munnich, A.; Bole-Feysot, C.; Nitschké, P.; Desguerre, I.; Boddaert, N.

Source

In: BMC Medical Genomics. (BMC Medical Genomics, December 2023, 16(1))

Subject

Language

English

ISSN

17558794

Online Access

EBSCOHost PDF Full Text (Gale Academic Onefile) Full Text (ProQuest Central) Open Access (BioMed Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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