Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.G1115*
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TEK

NM_000459.5:p.G1115*

Associated Papers

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Paolacci S et al.

Journal of Clinical Medicine, 2020

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

Du Z et al.

Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2017

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.

Castillo SD et al.

Science Translational Medicine, 2016

Common and specific effects of TIE2 mutations causing venous malformations.

Nätynki M et al.

Human Molecular Genetics, 2015

Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Soblet J et al.

Molecular Syndromology, 2013

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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."