Varaico: Literature-Extracted Genetic Variants

Gene:EMC1
Variant:p.I762V
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EMC1

NM_001271429.2:p.I762V

Associated Papers

Defective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy.

Li S et al.

Genes & Diseases, 2023

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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."