Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.R141S
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BEST2

NM_017682.3:p.R141S

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

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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."