Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK4
Variant:p.R1256*
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EIF2AK4

NM_001013703.4:p.R1256*

Associated Papers

Consistent Safety and Efficacy of Sotatercept for Pulmonary Arterial Hypertension in BMPR2 Mutation Carriers and Noncarriers: A Planned Analysis of a Phase II, Double-Blind, Placebo-controlled Clinical Trial (PULSAR).

Montani D et al.

American Journal of Respiratory and Critical Care Medicine, 2025

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

Castaño JAT et al.

Genes, 2020

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Zhu N et al.

Circulation. Genomic and Precision Medicine, 2018

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

Machado RD et al.

Human Mutation, 2015

Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis.

Ma L et al.

The Application of Clinical Genetics, 2015

Genetics of pulmonary hypertension.

Best DH et al.

Current Opinion in Cardiology, 2014

EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

Best DH et al.

Chest, 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."