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
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Casalino G et al.
Ophthalmology, 2021
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Kubota D et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2016
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