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Article

Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.

Cold Spring Harbor perspectives in medicine - 1 Feb 2024

Hanany Mor, Shalom Sapir, Ben-Yosef Tamar, Sharon Dror

Abstract excerpt

One of the considerations in planning the development of novel therapeutic modalities is disease prevalence that is usually defined by studying large national/regional populations. Such studies are rare and might suffer from inaccuracies and challenging clinical characterization in heterogeneous diseases, such as inherited retinal diseases (IRDs). Here we collected reported disease prevalence information on...

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Identifiers

PMID: 37460155
DOI: 10.1101/cshperspect.a041277
PMCID: PMC10835612

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