Varaico: Literature-Extracted Genetic Variants

Gene:SOX17
Variant:p.L167fs
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SOX17

NM_022454.4:p.L167fs

Associated Papers

Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension.

Jiang DJ et al.

International Journal of Cardiology, 2025

Light at the ENDothelium-role of Sox17 and Runx1 in endothelial dysfunction and pulmonary arterial hypertension.

Simmons Beck R et al.

Frontiers in Cardiovascular Medicine, 2023

An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants.

Montani D et al.

The European Respiratory Journal, 2022

Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.

Eichstaedt CA et al.

Respiratory Research, 2022

The pathophysiological role of novel pulmonary arterial hypertension gene SOX17.

Wu Y et al.

The European Respiratory Journal, 2021

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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."