Varaico: Literature-Extracted Genetic Variants

Gene:COX11
Variant:p.E140K
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COX11

NM_004375.5:p.E140K

Associated Papers

Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.

Torraco A et al.

Mitochondrion, 2015

COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.

Leary SC et al.

Molecular Biology of the Cell, 2013

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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."