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Article

Comprehensive Analysis of TEK Variants in Patients With Vascular Malformations.

Clinical genetics - 1 Apr 2025

Ghasemi Reza, Corliss Meagan M, Bowling Kevin M, Krysiak Kilannin, Walker Jason, Dickson Alexa M, Schroeder Molly C, Parikh Bijal A, Neidich Julie A, Polonis Katarzyna, Cao Yang

Abstract excerpt

Pathogenic variants in the receptor tyrosine kinase TIE2, encoded by TEK, are known to cause vascular malformations (VMs). In this study, we retrospectively reviewed the deidentified data generated through clinical NGS testing in our laboratory and found 88 VM cases with a total of 107 clinically significant TEK variants. Among those, 23 unique variants at the amino acid level were identified, including five...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39632338
DOI: 10.1111/cge.14667

Genes

TEK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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