Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.D312N
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BEST2

NM_017682.3:p.D312N

Associated Papers

Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.

Johnson AA et al.

Experimental Eye Research, 2014

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

Boon CJ et al.

Progress in Retinal and Eye Research, 2009

Regulation of bestrophins by Ca2+: a theoretical and experimental study.

Kranjc A et al.

Plos One, 2009

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

Hartzell HC et al.

Physiological Reviews, 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."