Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.R496G
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TGFBI

NM_000358.3:p.R496G

Associated Papers

A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Mohammadi A et al.

Iranian Journal of Basic Medical Sciences, 2020

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.

Lakshminarayanan R et al.

The Ocular Surface, 2014

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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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."