Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.N470_S471Splc
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TGFBI

NM_000358.3:p.N470_S471Splc

Associated Papers

Unilateral lattice corneal dystrophy with c.1501C>A (p.P501T) and c.1733T>C (p.L578P) variants in the transforming growth factor-beta induced gene: a case report.

Adachi R et al.

Ophthalmic Genetics, 2025

Exonic splicing code and coordination of divalent metals in proteins.

Bakhtiar D et al.

Nucleic Acids Research, 2024

38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf

In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies.

Yam GH et al.

Investigative Ophthalmology & Visual Science, 2012

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

Park KS et al.

Human Mutation, 2005

Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.

Tsujikawa K et al.

American Journal of Medical Genetics, 2002

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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."