Varaico: Literature-Extracted Genetic Variants

Gene:BEST2
Variant:p.S144G
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BEST2

NM_017682.3:p.S144G

Associated Papers

Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.

Lacassagne E et al.

Molecular Vision, 2011

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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."