Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.Y227*
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BEST1

NM_004183.4:p.Y227*

Associated Papers

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.

Doumanov JA et al.

International Journal of Molecular Sciences, 2013

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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."