Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

por Sangermano, Riccardo, Deitch, Iris, Peter, Virginie G., Ba-Abbad, Rola, Place, Emily M., Zampaglione, Erin, Wagner, Naomi E., Fulton, Anne B., Coutinho-Santos, Luisa, Rosin, Boris, Dunet, Vincent, AlTalbishi, Ala’a, Banin, Eyal, Sousa, Ana Berta, Neves, Mariana, Larson, Anna, Quinodoz, Mathieu, Michaelides, Michel, Ben-Yosef, Tamar, Pierce, Eric A., Rivolta, Carlo, Webster, Andrew R., Arno, Gavin, Sharon, Dror, Huckfeldt, Rachel M., Bujakowska, Kinga M.
Publicado 2021