Missing heritability of Stargardt disease hides in introns

Stargardt disease is caused by intron mutations in ABCA4 gene in 2/3 of patients.

More: Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides, R. Sangermano et al., published 15th January 2019, doi:10.1038/s41436-018-0414-9