Varaico: Literature-Extracted Genetic Variants

Gene:CD80
Variant:p.V42M
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CD80

NM_005191.4:p.V42M

Associated Papers

Gamma crystallins of the human eye lens.

Vendra VP et al.

Biochimica Et Biophysica Acta, 2016

The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract.

Vendra VP et al.

Plos One, 2012

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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."