Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V9L
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BEST1

NM_004183.4:p.V9L

Associated Papers

Characterization of functional and structural impairments in best vitelliform macular dystrophy using visual electrophysiology and optical coherence tomography in pediatric and adult patients.

Polosa A et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2025

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

Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.

Beryozkin A et al.

Investigative Ophthalmology & Visual Science, 2024

38411968 (PubMed )
Supplement: iovs-65-2-39_s001.pdf

Atypical Foveal Hypoplasia in Best Disease.

Moret E et al.

Journal of Personalized Medicine, 2023

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

Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.

Meunier I et al.

Ophthalmology, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."