Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK4
Variant:p.P1611_K1612insFs
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EIF2AK4

NM_001013703.4:p.P1611_K1612insFs

Associated Papers

Hereditary pulmonary veno-occlusive disease with a distinctive rare genetic pattern.

Qiu JY et al.

Thorax, 2025

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

Zeng X et al.

Bmc Pulmonary Medicine, 2023

Patient-specific and gene-corrected induced pluripotent stem cell-derived endothelial cells elucidate single-cell phenotype of pulmonary veno-occlusive disease.

Ma B et al.

Stem Cell Reports, 2022

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

Zhang C et al.

Bmc Pulmonary Medicine, 2022

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

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

Zeng X et al.

Bmc Pulmonary Medicine, 2020

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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."