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Year | Number of Results |
---|---|
2012 | 1 |
2016 | 1 |
2017 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 100303755
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Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
Hum Genet. 2017 Jun;136(6):759-769. doi: 10.1007/s00439-017-1794-7. Epub 2017 Apr 6.
Hum Genet. 2017.
PMID: 28386624
Free PMC article.
The Assembly Factor Pet117 Couples Heme a Synthase Activity to Cytochrome Oxidase Assembly.
Taylor NG, Swenson S, Harris NJ, Germany EM, Fox JL, Khalimonchuk O.
Taylor NG, et al.
J Biol Chem. 2017 Feb 3;292(5):1815-1825. doi: 10.1074/jbc.M116.766980. Epub 2016 Dec 20.
J Biol Chem. 2017.
PMID: 27998984
Free PMC article.
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Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.
Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP, Nijtmans LG, Huynen MA.
Szklarczyk R, et al.
Genome Biol. 2012 Feb 22;13(2):R12. doi: 10.1186/gb-2012-13-2-r12.
Genome Biol. 2012.
PMID: 22356826
Free PMC article.
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