Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.E306Q
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BEST1

NM_004183.4:p.E306Q

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_s014.xlsx › A._Variants_description

Atypical Foveal Hypoplasia in Best Disease.

Moret E et al.

Journal of Personalized Medicine, 2023

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.

Ji C et al.

Scientific Reports, 2019

Regulation of bestrophin Cl channels by calcium: role of the C terminus.

Xiao Q et al.

The Journal of General Physiology, 2008

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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."