Varaico: Literature-Extracted Genetic Variants

Gene:PTGIS
Variant:p.R252Q
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PTGIS

NM_000961.4:p.R252Q

Associated Papers

Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.

Chida-Nagai A et al.

Journal of the American Heart Association, 2024

Derivation of an induced pluripotent stem cell line (PUMCHi003-A) from a patient with pulmonary arterial hypertension carrying heterozygous mutation in PTGIS gene.

Zhang SJ et al.

Stem Cell Research, 2020

Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension.

Wang XJ et al.

Jama Cardiology, 2020

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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."