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inical data linked to genotypes provide important information for the development of new treatments, such as gene therapy, as well as for genetic counseling. Herein, we report a novel nonsense mutation of RPGRIP1 in two patients with LCA6 and present their long-term follow-up data. These clinical data linked to genotypes provide important information for the development of new treatments, such as gene therapy, as well as for genetic counseling. In low transmission settings early diagnosis is the main strategy to reduce adverse outcomes of
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