Varaico: Literature-Extracted Genetic Variants

Gene:ERLN
Variant:p.M1V
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ERLN

NM_001162997.2:p.M1V

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

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

Urbán Z et al.

Human Genetics, 2001

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

Urbán Z et al.

Human Genetics, 2000

Elastin mutation screening in a group of patients affected by vascular abnormalities.

Rodriguez-Revenga L et al.

Pediatric Cardiology, 0

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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."