Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.K586*
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NEXN

NM_144573.4:p.K586*

Associated Papers

Transposition of the Great Arteries With Intact Ventricular Septum and Fetal-Onset Dilated Cardiomyopathy in a Neonate With a Homozygous NEXN Variant.

Geer D et al.

Case Reports in Pediatrics, 2025

Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.

Rahimzadeh M et al.

Heart Failure Reviews, 2024

Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature.

Picciolli I et al.

Italian Journal of Pediatrics, 2024

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.

Johansson J et al.

American Journal of Medical Genetics. Part A, 2022

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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."