ArticleThe application of clinical genetics2026
Functional Validation of a Novel Deep Intronic
Article in The application of clinical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: Retinitis pigmentosa (RP) is a genetically heterogeneous group of inherited retinal dystrophies often accompanied by macular involvement. Variants in Methods: A comprehensive clinical, genetic, and functional assessment was performed. Ophthalmic evaluations included fundus photography, optical coherence tomography (OCT), OCT angiography (OCTA), and multifocal electroretinography (mfERG). Whole-genome sequencing followed by Sanger validation and segregation analysis was conducted. In silico splicing prediction and dual minigene assays (pcMINI and pcMINI-C) in HEK293T and HeLa cells were employed to evaluate the splicing effect of the variant. Results: A novel homozygous deep intronic variant in Conclusion: This study provides the first functional evidence that a deep intronic
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