Varaico: Literature-Extracted Genetic Variants

Gene:EN2
Variant:p.A278V
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EN2

NM_001427.4:p.A278V

Associated Papers

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

Rainger J et al.

Plos Genetics, 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."