Associated Papers
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Bitan J et al.
Investigative Ophthalmology & Visual Science, 2025
40891781 (PubMed )
Supplement: iovs-66-12-4_s009.xlsx › A._Variants_description
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.
Cideciyan AV et al.
Vision Research, 2023
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.
Guziewicz KE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
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