Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Y227N
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ABCA4

NM_000350.3:p.Y227N

Associated Papers

Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2).

Li Y et al.

Human Genetics, 2004

The mutation spectrum of the bestrophin protein--functional implications.

Bakall B et al.

Human Genetics, 1999

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

Marquardt A et al.

Human Molecular Genetics, 1998

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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."