Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.L40L
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BEST1

NM_004183.4:p.L40L

Associated Papers

VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.

White K et al.

Human Mutation, 2000

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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."