Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.L14S
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BEST1

NM_004183.4:p.L14S

Associated Papers

Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.

Sæther E et al.

Acta Ophthalmologica, 2026

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_s014.xlsx › A._Variants_description

Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families.

Zhu ZH et al.

International Journal of Ophthalmology, 2022

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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."