Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V275I
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BEST1

NM_004183.4:p.V275I

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

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.

Pfister TA et al.

Investigative Ophthalmology & Visual Science, 2021

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

Boon CJ et al.

Progress in Retinal and Eye Research, 2009

Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration.

Yu K et al.

Investigative Ophthalmology & Visual Science, 2007

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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."