Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.N269fs
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SORD

NM_003104.6:p.N269fs

Associated Papers

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

Thompson K et al.

Hgg Advances, 2022

35321494 (PubMed )
Supplement: mmc2.pdf
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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."