Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R25L
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BEST1

NM_004183.4:p.R25L

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

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.

Laich Y et al.

Ophthalmology, 2024

38278445 (PubMed )
Supplement: mmc4.pdf

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Shah M et al.

Jama Ophthalmology, 2020

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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."