The intronic <i><scp>ABCA</scp>4</i> c.5461‐10T&gt;C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced <scp>ABCA</scp>4 protein level

Abstract

This study describes the functional effect and the molecular mechanism of the pathogenic ABCA4 variant c.5461-10T>C. The variant is functionally important as it leads to splicing defects and a reduced level of ABCA4 protein.