Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.G623S
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TGFBI

NM_000358.3:p.G623S

Associated Papers

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

Auw-Haedrich C et al.

Ophthalmology, 2009

A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.

Aldave AJ et al.

Ophthalmology, 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."