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.
"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."
JOHN GARCIA, Invitae
San Francisco, USA