Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.A925S
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TEK

NM_000459.5:p.A925S

Associated Papers

Review of the endothelial pathogenic mechanism of TIE2-related venous malformation.

Du Z et al.

Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2017

Common and specific effects of TIE2 mutations causing venous malformations.

Nätynki M et al.

Human Molecular Genetics, 2015

Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.

Brahami N et al.

Genetics Research International, 2013

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

Wouters V et al.

European Journal of Human Genetics : Ejhg, 2010

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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."