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TITLE: Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
AUTHORS: Sangermano, R; Deitch, I; Peter, VG; Ba Abbad, R; Place, EM; Zampaglione, E; Wagner, NE; Fulton, AB; Coutinho Santos, L; Rosin, B; Dunet, V; AlTalbishi, A; Banin, E; Sousa, AB; Neves, M; Larson, A; Quinodoz, M; Michaelides, M; Ben Yosef, T; Pierce, EA; Rivolta, C; Webster, AR; Arno, G; Sharon, D; Huckfeldt, RM; Bujakowska, KM; ...More
PUBLISHED: 2021, SOURCE: NPJ GENOMIC MEDICINE, VOLUME: 6, ISSUE: 1
INDEXED IN: Scopus WOS