Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.F298V
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BEST1

NM_004183.4:p.F298V

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

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.

Hull S et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

Nachtigal AL et al.

International Journal of Molecular Sciences, 2020

32111077 (PubMed )
Supplement: ijms-21-01597-s001.pdf

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.

Khan KN et al.

Retina (philadelphia, Pa.), 2017

Unilateral BEST1-Associated Retinopathy.

Arora R et al.

American Journal of Ophthalmology, 2016

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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."