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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COX17

Variant:p.C36S

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COX17

NM_005694.2:p.C36S

hg38:chr3:119675234 C>G

Associated Papers

Mutagenesis reveals a specific role for Cox17p in copper transport to cytochrome oxidase.

Punter FA et al.

The Journal of Biological Chemistry, 2003

12788943 (PubMed )

Mutational analysis of the mitochondrial copper metallochaperone Cox17.

Heaton D et al.

The Journal of Biological Chemistry, 2000

10970896 (PubMed )

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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."