Article

Clinical Exome Sequencing for Inherited Retinal Disorders at a Tertiary Care Center

2022-02-28

Abstract excerpt

<h4>Purpose: </h4> Inherited retinal disorders are clinically, and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of individuals with hereditary retinal disorders. <h4>Design:</h4> It is a retrospective study of 357 unrelated affected individuals, diagnosed with retinal dis...

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Literature Corpus work: cb110f53-14fe-52bb-a289-78352d54b528
DOI: 10.21203/rs.3.rs-1366853/v1

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