Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.D144G
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EPHA3

NM_005233.6:p.D144G

Associated Papers

Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.

Tang S et al.

Molecular Vision, 2019

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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."