Article

CRISPRa-mediated activation of genes associated with inherited retinal dystrophies in acutely isolated human cells for diagnostic purposes

2024-12-01

Abstract excerpt

Many patients suffering from inherited diseases do not receive a genetic diagnosis and are therefore excluded as candidates for treatments, such as gene therapies. Analyzing disease-related gene transcripts from patient cells would improve detection of mutations that have been missed or misinterpreted in terms of pathogenicity during routine genome sequencing. However, the analysis of transcripts is complicated by...

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Literature Corpus work: 90f65bfe-533e-5f84-8065-2dc612a4ea72
DOI: 10.1101/2024.11.29.625601

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