Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.Y1108*
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TEK

NM_000459.5:p.Y1108*

Associated Papers

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.

Ghasemi R et al.

Clinical Genetics, 2025

How we approach genetics in the diagnosis and management of vascular anomalies.

Setty BA et al.

Pediatric Blood & Cancer, 2022

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

Paolacci S et al.

Journal of Clinical Medicine, 2020

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

Mattassi R et al.

Journal of Vascular Surgery, 2018

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.

Soblet J et al.

The Journal of Investigative Dermatology, 2017

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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."