Varaico: Literature-Extracted Genetic Variants

Gene:TMEM43
Variant:p.S193L
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TMEM43

NM_024334.3:p.S193L

Associated Papers

Spectrum of genetic variants detected in children tested for long QT syndrome.

Kemezyte A et al.

Bmc Cardiovascular Disorders, 2025

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M et al.

Acta Neuropathologica Communications, 2014

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