Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK4
Variant:p.I839T
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EIF2AK4

NM_001013703.4:p.I839T

Associated Papers

Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension.

Emanuelli G et al.

Human Molecular Genetics, 2024

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

Hadinnapola C et al.

Circulation, 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."