Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.F17I
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BEST1

NM_004183.4:p.F17I

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 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

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Shah M et al.

Jama Ophthalmology, 2020

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Kersten E et al.

Clinical Genetics, 2018

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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."