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Article

Virus-like particles as robust tools for functional assessment: Deciphering the pathogenicity of ABCA4 genetic variants of uncertain significance.

The Journal of biological chemistry - 1 Oct 2024

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

Abstract excerpt

The retina-specific ABCA transporter, ABCA4, is essential for vision, and its genetic variants are associated with a wide range of inherited retinal degenerative diseases, leading to blindness. Of the 1630 identified missense variants in ABCA4, ∼50% are of unknown pathogenicity (variants of unknown significance, VUS). This genetic uncertainty presents three main challenges: (i) inability to predict...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39222682
DOI: 10.1016/j.jbc.2024.107739
PMCID: PMC11474199

Genes

ABCA4

Variants

Provenance

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