Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS1
Variant:p.E647G
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NDUFS1

NM_005006.7:p.E647G

Associated Papers

The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.

Elson JL et al.

Mitochondrion, 2015

26349026 (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."