Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.E300D
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BEST2

NM_017682.3:p.E300D

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

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

Kranjc A et al.

Plos One, 2009

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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."