Varaico: Literature-Extracted Genetic Variants

Gene:AQP1
Variant:p.R195W
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AQP1

NM_198098.4:p.R195W

Associated Papers

Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature.

Gallego-Zazo N et al.

Genes, 2022

New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis.

Aldred MA et al.

Circulation Research, 2022

Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.

Fazal S et al.

Cells, 2021

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

van den Heuvel LM et al.

Genes, 2020

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 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."