Varaico: Literature-Extracted Genetic Variants

Gene:TEK
Variant:p.T1106P
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TEK

NM_000459.5:p.T1106P

Associated Papers

Blue Nodules in a 2-Year-Old Female With Chronic Severe Anemia.

Ross KR et al.

International Journal of Dermatology, 2025

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.

Ghasemi R et al.

Clinical Genetics, 2025

Genetic mutation and blue rubber bleb nevus syndrome: case reports and literature review.

Xing Y et al.

Frontiers in Genetics, 2025

The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.

Butnariu LI et al.

International Journal of Molecular Sciences, 2022

Sirolimus as a promising drug therapy for blue rubber bleb nevus syndrome: Two-case report.

Ma JX et al.

Sage Open Medical Case Reports, 2022

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

Bell LM et al.

Human Molecular Genetics, 2021

Bockenheimer disease is associated with a TEK variant.

Sudduth CL et al.

Cold Spring Harbor Molecular Case Studies, 2021

Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.

Colmenero I et al.

Dermatopathology (basel, Switzerland), 2021

Etiology and Genetics of Congenital Vascular Lesions.

Queisser A et al.

Otolaryngologic Clinics of North America, 2018

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

Du Z et al.

Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2017

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

Soblet J et al.

The Journal of Investigative Dermatology, 2017

Double Jeopardy: The Rubber Ball Bounces Twice.

Arbiser JL et al.

The Journal of Investigative Dermatology, 2017

Common and specific effects of TIE2 mutations causing venous malformations.

Nätynki M et al.

Human Molecular Genetics, 2015

Classification and Tie2 mutations in spinal and soft tissue vascular anomalies.

Zhou M et al.

Gene, 2015

Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Soblet J et al.

Molecular Syndromology, 2013

The genetics of vascular birthmarks.

Mahajan P et al.

Clinics in Dermatology, 0

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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."