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    A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy by Rita Serra, Vincenzo Rallo, Maristella Steri, Stefania Olla, Maria Grazia Piras, Michele Marongiu, Myriam Gorospe, David Schlessinger, Antonio Pinna, Edoardo Fiorillo, Francesco Cucca, Andrea Angius

    Published 2024-07-01
    “…We described the clinical findings, natural history, and molecular analyses of USH patients identified during a large-scale screening to identify quantitative traits related to ocular disorders in the SardiNIA project cohort. Methods We identified 3 USH-affected families out of a cohort of 6,148 healthy subjects. 9 subjects presented a pathological phenotype, with SNHL and RP. …”
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