AIMP2

Publications

Shukla A et al. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. J Hum Genet. 2018;63(1):19–25. PMID: 29215095.

Mazaheri M et al. Mutation in AIMP2/P38, the Scaffold for the Multi-Trna Synthetase Complex, and Association With Progressive Neurodevelopmental Disorders. Front Genet. 2022;13:816987. PMID: 35140751.