Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L107_H108delins
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ENG

NM_001114753.3:p.L107_H108delins

Associated Papers

The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.

Hayvaci Canbeyli F et al.

Pediatric Cardiology, 2026

Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.

Blatt J et al.

Pediatric Blood & Cancer, 2025

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.

Mallet C et al.

Human Molecular Genetics, 2015

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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."