Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.T125_E126del0
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TGFBI

NM_000358.3:p.T125_E126del0

Associated Papers

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.

Kheir V et al.

Human Mutation, 2019

Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.

Ann LB et al.

The British Journal of Ophthalmology, 2017

TGFBI gene mutations in corneal dystrophies.

Kannabiran C et al.

Human Mutation, 2006

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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."