Summary
This paper discusses the use of next generation sequencing to identify pathogenic variants in patients with inherited retinal diseases (IRDs), and provides detailed results from several case studies.
Categories
Eye health: The paper focuses on inherited retinal diseases, discussing the use of next generation sequencing to identify pathogenic variants in patients with these conditions.
Genetic Disorders: The paper discusses inherited retinal diseases, which are genetic disorders caused by variants in around 280 genes.
Medical Research: The paper presents research on the use of next generation sequencing to identify pathogenic variants in patients with inherited retinal diseases.
Author(s)
SAA Yahya
Publication Year
2023
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