Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.R915H
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TEK

NM_000459.5:p.R915H

Associated Papers

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.

Ghasemi R et al.

Clinical Genetics, 2025

[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].

Pikó H et al.

Orvosi Hetilap, 2024

A pediatric case of TEK-Related malformations and marfanoid habitus: an incidental finding or a feature?

Buonuomo PS et al.

Lymphology, 2022

Genetic skin disorders: The value of a multidisciplinary clinic.

Parker JC et al.

American Journal of Medical Genetics. Part A, 2021

Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.

Alankarage D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

Szot JO et al.

Circulation. Genomic and Precision Medicine, 2018

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

Zebrafish Tie-2 shares a redundant role with Tie-1 in heart development and regulates vessel integrity.

Gjini E et al.

Disease Models & Mechanisms, 2011

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

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.

Limaye N et al.

Nature Genetics, 2009

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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."