Article

Exonic splice variant discovery using in vitro models of inherited retinal disease

2024-05-10

Abstract excerpt

<h4>ABSTRACT</h4> Correct identification of the molecular consequences of pathogenic genetic variants is essential to the development of allele-specific therapies. However, in some cases, such molecular effects may be ambiguous following genetic sequence analysis alone. One such case is exonic, codon-altering variants that are also predicted to disrupt normal RNA splicing. Here, we identify such cases in the cont...

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Literature Corpus work: 368b5d51-1b1b-5e09-b2d0-f66661c8081b
DOI: 10.1101/2024.05.06.592740

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