Article

Genomic landscape of inherited retinal diseases for gene therapy and clinical trials in Argentina

2026-07-16

Abstract excerpt

<title>Abstract</title> <p>Inherited retinal diseases (IRDs) are highly heterogeneous disorders that pose challenges for molecular diagnosis and clinical translation. We analysed 808 molecularly solved patients from the SARA cohort, comprising 674 families and 1294 patient–variant observations involving 109 IRD-associated genes and 738 unique variants. Disease burden was concentrated in a limited number of diagno...

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Literature Corpus work: f50a05da-9359-5d59-ae28-9334b1f0edec
DOI: 10.21203/rs.3.rs-9970614/v1

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