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Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde - 1 Jan 2024

Gregory-Evans Kevin, Kolawole Olubayo U, Molday Robert S, Gregory-Evans Cheryl Y

Abstract excerpt

INTRODUCTION: Conclusive molecular genetic diagnoses in inherited retinal diseases remains a major challenge due to the large number of variants of uncertain significance (VUS) identified in genetic testing. Here, we determined the genotypic and phenotypic spectrum of ABCA4 gene variants in a cohort of Canadian inherited retinal dystrophy subjects. METHODS: This retrospective study evaluated 64 subjects with an...

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ATP-Binding Cassette Transporters
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Retinal Dystrophies

Tomography, Optical Coherence

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PMID: 39043154
DOI: 10.1159/000540361

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Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.PMID 39043154Read ↗

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