Varaico: Literature-Extracted Genetic Variants

Gene:NSUN3
Variant:p.P155insFs
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NSUN3

NM_022072.5:p.P155insFs

Associated Papers

Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature.

Şenol Ersak A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2026

The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.

Bilgin H et al.

Molecular Genetics and Metabolism Reports, 2024

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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."