Varaico: Literature-Extracted Genetic Variants

Gene:TAMM41
Variant:p.P137L
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TAMM41

NM_001284401.2:p.P137L

Associated Papers

A Novel Variant in the TAMM41-Associated Mitochondrial Myopathy.

Moreno CAM et al.

American Journal of Medical Genetics. Part A, 2025

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.

Thompson K et al.

Hgg Advances, 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."