Varaico: Literature-Extracted Genetic Variants

Gene:SOX17
Variant:p.P139L
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SOX17

NM_022454.4:p.P139L

Associated Papers

SOX17 variants are associated with severe pulmonary arterial hypertension with and without congenital heart disease.

Morgan C et al.

International Journal of Cardiology, 2026

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

Gallego-Zazo N et al.

Genes, 2023

37895315 (PubMed )
Supplement: genes-14-01965-s001.zip › genes-2632416-supplementary.pdf

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

Montani D et al.

The European Respiratory Journal, 2022

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