Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.V1177M
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LTBP2

NM_000428.3:p.V1177M

Associated Papers

A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.

Bozkurt B et al.

Ophthalmic Genetics, 2024

Latent TGF-β-binding proteins.

Robertson IB et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2015

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

Haji-Seyed-Javadi R et al.

Human Mutation, 2012

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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."