Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.Y637_C638delFs
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NEXN

NM_144573.4:p.Y637_C638delFs

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

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

Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.

Stroeks SLVM et al.

Circulation. Genomic and Precision Medicine, 2023

36971006 (PubMed )
Supplement: circgenetics_circcvg-2022-003788_supp1.pdf

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

Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.

Stroeks SLVM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.

Verdonschot JAJ et al.

Circulation. Heart Failure, 2018

30571196 (PubMed )
Supplement: circhf_circhf-2018-005220_supp1.pdf

Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy.

Hazebroek MR et al.

Circulation. Heart Failure, 2018

29540472 (PubMed )
Supplement: circhf_circhf-2017-004682_supp1.pdf
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