Varaico: Literature-Extracted Genetic Variants

Gene:SOX17
Variant:p.R140P
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SOX17

NM_022454.4:p.R140P

Associated Papers

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

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

The pathophysiological role of novel pulmonary arterial hypertension gene SOX17.

Wu Y et al.

The European Respiratory Journal, 2021

SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension.

Hiraide T et al.

American Journal of Respiratory and Critical Care 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

Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Schütte M et al.

Nature Communications, 2017

28186126 (PubMed )
Supplement: ncomms14262-s8.xlsx › all_discordant_SNVs_Indels
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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."