Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.E211D
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ABCA4

NM_000350.3:p.E211D

Associated Papers

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Thiadens AA et al.

American Journal of Human Genetics, 2009

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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."