A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
Nicolle R,Altin N,Siquier-Pernet K,Salignac S,Blanc P,Munnich A,Bole-Feysot C,Malan V,Caron B,Nitschké P,Desguerre I,Boddaert N,Rio M,Rausell A,Cantagrel V
Source :
2023 Jun 21
Pmid / DOI:
10.1186/s12920-023-01582-z