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
BEST1 associated bestrophinopathies with angle closure and post-surgical malignant glaucoma.
Parameswarappa DC et al.
Ophthalmic Genetics, 2024
Genetics of Inherited Retinal Diseases in Understudied Populations.
Kannabiran C et al.
Frontiers in Genetics, 2022
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
34015078 (PubMed )
Supplement: iovs-62-6-22_s001.pdf
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
Nguyen TT et al.
Scientific Reports, 2018
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