Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.W93C
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BEST2

NM_017682.3:p.W93C

Associated Papers

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

Boon CJ et al.

Progress in Retinal and Eye Research, 2009

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.

Hartzell HC et al.

Physiological Reviews, 2008

Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration.

Hartzell C et al.

Physiology (bethesda, Md.), 2005

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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."