Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.R124H
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VSX1

NM_014588.6:p.R124H

Associated Papers

In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies.

Yam GH et al.

Investigative Ophthalmology & Visual Science, 2012

Genetics of corneal disease for the ocular surface clinician.

Sjoberg SA

The Ocular Surface, 2005

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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."