Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V253I
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BEST1

NM_004183.4:p.V253I

Associated Papers

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

Marchant D et al.

Human Mutation, 2001

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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."