Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G581E
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ELN

NM_000501.4:p.G581E

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

Phenotypic findings associated with variation in elastin.

Justice A et al.

Hgg Advances, 2025

39604264 (PubMed )
Supplement: mmc1.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."