Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility.
Khan D, Ramachandiran I, Vasu K, China A, Khan K, Cumbo F, Halawani D, Terenzi F, Zin I, Long B, Costain G, Blaser S, Carnevale A, Gogonea V, Dutta R, Blankenberg D, Yoon G, Fox PL.
Khan D, et al.
Nat Commun. 2024 May 20;15(1):4284. doi: 10.1038/s41467-024-48549-x.
Nat Commun. 2024.
PMID: 38769304