Article

Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases

2021-06-09

Abstract excerpt

Inherited retinal diseases (IRD) comprise a heterogeneous set of clinical and genetic disorders that lead to blindness. Given the emerging opportunities in precision medicine and gene thera-py, it has become increasingly important to determine whether DNA variants with uncertain significance (VUS) are responsible for the patients’ IRD. This research was performed to assess the functional consequence of six V...

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Literature Corpus work: 98e162b3-37c9-57c5-99f7-45b812151ac9
DOI: 10.20944/preprints202106.0275.v1

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