Varaico: Literature-Extracted Genetic Variants

Gene:SOX17
Variant:p.N95S
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SOX17

NM_022454.4:p.N95S

Associated Papers

SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.

Mullen MP et al.

The Journal of Pediatrics, 2025

Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.

Racca JD et al.

The Journal of Biological Chemistry, 2024

39168182 (PubMed )
Supplement: mmc1.docx

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

Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.

Underwood A et al.

Genes, 2023

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

The pathophysiological role of novel pulmonary arterial hypertension gene SOX17.

Wu Y et al.

The European Respiratory Journal, 2021

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

Zhu N et al.

Genome Medicine, 2018

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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."