Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.N470_S471Splc
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TGFBI

NM_000358.3:p.N470_S471Splc

Associated Papers

Spheroidal degeneration in H626R TGFBI variant lattice dystrophy: a multimodality analysis.

Lai K et al.

Cornea, 2014

Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp.

Patel DA et al.

Cornea, 2010

TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.

Vincent AL et al.

The British Journal of Ophthalmology, 2010

Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy.

Edelstein SL et al.

Cornea, 2010

Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMI.

Park KS et al.

Human Mutation, 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."