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Article

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases.

Investigative ophthalmology & visual science - 17 Nov 2014

van Huet Ramon A C, Oomen Clasien J, Plomp Astrid S, van Genderen Maria M, Klevering B Jeroen, Schlingemann Reinier O, Klaver Caroline C W, van den Born L Ingeborgh, Cremers Frans P M

Abstract excerpt

Inherited retinal diseases (IRDs) represent a clinical and genetic heterogeneous group of chorioretinal disorders. The frequency of persons affected by an IRD due to mutations in the same gene varies from 1 in 10,000 to less than 1 in a million. To perform meaningful genotype-phenotype analyses f...

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PMID: 25404643
DOI: 10.1167/iovs.14-15317

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25404643-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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