The causes of retinal dystrophy and the development of more comprehensive screening approach
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
Number of Citations:
0
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