Varaico: Literature-Extracted Genetic Variants

Gene:SOX17
Variant:p.L167_V174delFs
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SOX17

NM_022454.4:p.L167_V174delFs

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

Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.

Gallego-Zazo N et al.

Genes, 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

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Zhu N et al.

Genome Medicine, 2018

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM3_ESM.xlsx › Suppl._Dataset_3
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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."