Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G610D
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ELN

NM_000501.4:p.G610D

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

Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.

Urbán Z et al.

Human Genetics, 2001

Elastin: mutational spectrum in supravalvular aortic stenosis.

Metcalfe K et al.

European Journal of Human Genetics : Ejhg, 2000

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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."