Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.S516Splc
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TGFBI

NM_000358.3:p.S516Splc

Associated Papers

A comprehensive molecular genetic analysis of keratoconus patients from assam, a northeastern state of India.

Chakravarty M et al.

European Journal of Ophthalmology, 2022

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

Patel DA 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."