Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.F305L
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BEST1

NM_004183.4:p.F305L

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

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.

Low S et al.

Molecular Vision, 2011

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.

Testa F et al.

The British Journal of Ophthalmology, 2008

Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization.

Al-Abri M et al.

Oman Journal of Ophthalmology, 0

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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."