Riccardo Sangermano and colleagues conduct analyses to elucidate the functional effect of the ABCA4 variant c.5461-10T>C, one of the most frequent variants associated with Stargardt disease (STGD1). Based on their results and phenotype in persons homozygous for this variant, they concluded that this variant results in the absence of ABCA4 activity.
Sangermano, Riccardo et al. Ophthalmology.
"Alamut is the best tool I have used for the annotation of DNA variants. It has a great user interface, combines data from multiple sources and allows for ease of variant interpretation by clinical geneticists."
JORDAN LERNER-ELLIS, Ph.D.
Mt. Sinai Hospital, Toronto