Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK4
Variant:p.K1631Splc
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EIF2AK4

NM_001013703.4:p.K1631Splc

Associated Papers

Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report.

Zeng X et al.

Bmc Pulmonary Medicine, 2020

EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension.

Eichstaedt CA et al.

Respiratory Research, 2016

Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool.

Song J et al.

Clinical Science (london, England : 1979), 2016

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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."