Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.E98D
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BEST1

NM_004183.4:p.E98D

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

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

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy.

Augstburger E et al.

American Journal of Ophthalmology, 2019

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