Varaico: Literature-Extracted Genetic Variants

Gene:TMEM43
Variant:p.N148Splc
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TMEM43

NM_024334.3:p.N148Splc

Associated Papers

Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.

Temena MA et al.

Scientific Reports, 2025

40369053 (PubMed )
Supplement: 41598_2025_1007_MOESM2_ESM.xlsx › Table_1C

Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.

Christensen AH et al.

Clinical Genetics, 2011

[Clinical and genetic findings in arrhythmogenic right ventricular cardiomyopathy].

Christensen AH et al.

Ugeskrift for Laeger, 2011

[Ventricular tachyarrhythmias in patients with cardiomyopathy].

Henningsen K et al.

Ugeskrift for Laeger, 2008

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