Article
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes
2024-06-11
Abstract excerpt
Inherited retinal diseases (IRDs) are extremely heterogeneous with at least 350 causative genes, complicating the process of genetic diagnosis. We analyzed samples of 252 index cases with IRDs using the Blueprint Genetics panel for “Retinal Dystrophy” that includes 351 genes. The cause of disease could be identified in 55% of cases. A clear difference was obtained between newly-recruited cases (74% solved) and cas...
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Identifiers and source
- Literature Corpus work
- 3b9be39d-3c11-55fb-a50a-64a8dc093ffd
- DOI
- 10.20944/preprints202406.0581.v1