Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G384R
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ELN

NM_000501.4:p.G384R

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

41695747 (PubMed )
Supplement: Supplementaryfile1.xlsx › Table1

Phenotypic findings associated with variation in elastin.

Justice A et al.

Hgg Advances, 2025

Phenotypic Findings Associated with Variation in Elastin.

Justice A et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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