Varaico: Literature-Extracted Genetic Variants

Gene:COL8A2
Variant:p.G394R
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COL8A2

NM_005202.4:p.G394R

Associated Papers

Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies.

Alka K et al.

Human Mutation, 2018

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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."