[R01] Understanding ABCA4 Variants of Unknown Significance Through Computational and Functional Approaches
Ente: National Eye Institute
Scadenza: 2029-03-31
Importo max: $460,197
Paese: US
Descrizione
ABSTRACT
Variants in the ABCA4 gene are a fundamental cause of several inherited retinal degenerations (IRDs),
including Stargardt macular dystrophy, fundus flavimaculatus, and cone-rod dystrophy; these three ABCA4-
driven diseases cause blindness in 1.4 million people worldwide. As a result, geneti
Settori: National Eye Institute
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