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- W3126380323 abstract "Inherited retinal dystrophies (IRD) comprise a heterogeneous group of disorders that affect visual function. IRD occur in isolated forms or in association with systemic abnormalities.1 Over 300 disease-causing genes have been identified in IRD. The authors thank Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) for have funded this study." @default.
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- W3126380323 date "2021-02-03" @default.
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- W3126380323 title "<i>PRPS1</i> Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women" @default.
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- W3126380323 doi "https://doi.org/10.1212/nxg.0000000000000563" @default.
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