Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V114A
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BEST1

NM_004183.4:p.V114A

Associated Papers

Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.

Cideciyan AV et al.

Vision Research, 2023

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.

Guziewicz KE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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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."