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Article

Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.

Investigative ophthalmology & visual science - 2 Sept 2025

Bitan Joan, Poncet Anaïs F, Lecigne Claire, Devos Aurore, Meunier Isabelle, Zanlonghi Xavier, Grunewald Olivier, Smirnov Vasily, Dhaenens Claire-Marie

Abstract excerpt

Purpose: To update knowledge on bestrophin-1 structure and function with the aim of assessing the pathogenicity of variants reported in the Leiden Open Variation Database (LOVD) and in a large French cohort of bestrophinopathies. Methods: All unique variants reported in the latest version (October 2024) of the BEST1-LOVD database were uploaded and curated. We described all BEST1 variants identified in French...

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Bestrophins
Child
Cohort Studies
Eye Diseases, Hereditary
France

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Diseases

Structure-Activity Relationship

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Identifiers

PMID: 40891781
DOI: 10.1167/iovs.66.12.4
PMCID: PMC12410269

Genes

BEST1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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