Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.P427delFs
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ELN

NM_000501.4:p.P427delFs

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

A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20.

Dedic J et al.

Human Mutation, 2001

Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis.

Arrington CB et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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