Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK4
Variant:p.V464delFs
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EIF2AK4

NM_001013703.4:p.V464delFs

Associated Papers

Pulmonary veno-occlusive disease in Sjogren's syndrome: a case report.

Zeng X et al.

Bmc Pulmonary Medicine, 2023

A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease.

Zhang C et al.

Bmc Pulmonary Medicine, 2022

Screening for pulmonary veno-occlusive disease in heterozygous EIF2AK4 variant carriers.

Lechartier B et al.

The European Respiratory Journal, 2022

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

Zeng X et al.

Bmc Pulmonary Medicine, 2020

Good response to PAH-targeted drugs in a PVOD patient carrying Biallelic EIF2AK4 mutation.

Liang L et al.

Respiratory Research, 2018

EIF2AK4 mutation in pulmonary veno-occlusive disease: A case report and review of the literature.

Liang L et al.

Medicine, 2016

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

EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

Best DH et al.

Chest, 2014

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."