Varaico: Literature-Extracted Genetic Variants

Gene:TBCD
Variant:p.G555D
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TBCD

NM_005993.5:p.G555D

Associated Papers

TGFBI gene mutations in a Korean population with corneal dystrophy.

Cho KJ et al.

Molecular Vision, 2012

Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor.

Fukuoka H et al.

Investigative Ophthalmology & Visual Science, 2010

The IC3D classification of the corneal dystrophies.

Weiss JS et al.

Cornea, 2008

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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."