Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R141_V143delFs
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BEST1

NM_004183.4:p.R141_V143delFs

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

Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.

Zhao D et al.

Bmc Ophthalmology, 2024

Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.

Gao FJ et al.

The British Journal of 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."