Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.A288insFs
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ELN

NM_000501.4:p.A288insFs

Associated Papers

Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.

Cheng P et al.

Frontiers in Pediatrics, 2026

Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.

Min S et al.

Circulation. Genomic and Precision Medicine, 2020

Everolimus Rescues the Phenotype of Elastin Insufficiency in Patient Induced Pluripotent Stem Cell-Derived Vascular Smooth Muscle Cells.

Kinnear C et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

32212852 (PubMed )
Supplement: atv-40-1325-s001.pdf
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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."