Splice-altering genetic variants are found in individuals with infantile cardiomyopathy, but the consequences are unclear. A study now shows that aberrant splicing of only one exon in the AARS2 gene can cause devastating heart development defects, phenocopying patient congenital cardiomyopathy.
- Rachel L. DeLancey
- Sunil K. Verma
- Muge N. Kuyumcu-Martinez
