Varaico: Literature-Extracted Genetic Variants

Gene:TAMM41
Variant:p.N269insFs
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TAMM41

NM_001284401.2:p.N269insFs

Associated Papers

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

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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