Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.I91M
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AQP1

NM_198098.4:p.I91M

Associated Papers

A cluster of heritable pulmonary arterial hypertension cases in a family with all three siblings carrying the same novel AQP1 c.273C>G variant-a case report.

Liang KW et al.

Pulmonary Circulation, 2023

Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan.

Liang KW et al.

Frontiers in Cardiovascular Medicine, 2022

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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."