Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK4
Variant:p.L1355_I1356Splc
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EIF2AK4

NM_001013703.4:p.L1355_I1356Splc

Associated Papers

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.

Eyries M et al.

Nature Genetics, 2014

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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."