Varaico: Literature-Extracted Genetic Variants

Gene:SOX17
Variant:p.R115fs
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SOX17

NM_022454.4:p.R115fs

Associated Papers

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

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

Zhu N et al.

Genome Medicine, 2018

Novel SOX17 frameshift mutations in endometrial cancer are functionally distinct from recurrent missense mutations.

Walker CJ et al.

Oncotarget, 2017

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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."