Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.V625del1
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TGFBI

NM_000358.3:p.V625del1

Associated Papers

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

Kheir V et al.

Human Mutation, 2019

TGFBI gene mutations in corneal dystrophies.

Kannabiran C et al.

Human Mutation, 2006

TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.

Chakravarthi SV et al.

Investigative Ophthalmology & Visual Science, 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."