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Article

Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.

Advances in experimental medicine and biology - 1 Jan 2025

Cevik Senem, Biswas Subhasis B, Biswas-Fiss Esther E

Abstract excerpt

Genetic variants of ABCA4 are associated with a spectrum of inherited retinal degenerations, causing progressive vision loss due to rod and cone photoreceptor death and retinal pigment epithelium atrophy, ultimately leading to blindness. Understanding the functional implications and assessing the pathogenicity of the extensive number of ABCA4 variants, which exceed 3000, remains a formidable challenge. A...

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Identifiers

PMID: 39930174
DOI: 10.1007/978-3-031-76550-6_11
PMCID: PMC12967163

Genes

ABCA4

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Related research

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Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.PMID 39930174Read ↗

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