Varaico: Literature-Extracted Genetic Variants

Gene:TIMP3
Variant:p.S170C
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TIMP3

NM_000362.5:p.S170C

Associated Papers

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.

Gliem M et al.

Investigative Ophthalmology & Visual Science, 2015

A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy.

Schoenberger SD et al.

Retina (philadelphia, Pa.), 2013

A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy.

Stöhr H et al.

Advances in Experimental Medicine and Biology, 2012

S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis.

Qi JH et al.

The Journal of Biological Chemistry, 2009

A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.

Lin RJ et al.

American Journal of Ophthalmology, 2006

Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells.

Langton KP et al.

Human Molecular Genetics, 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."