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PubMed (OMIM) for id: 23590

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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Jurkute N, Cancellieri F, Pohl L, Li CHZ, Heaton RA, Reurink J, Bellingham J, Quinodoz M, Yioti G, Stefaniotou M, Weener M, Zuleger T, Haack TB, Stingl K; Genomics England Research Consortium; Hoyng CB, Mahroo OA, Hargreaves I, Raymond FL, Michaelides M, Rivolta C, Kohl S, Roosing S, Webster AR, Arno G. Jurkute N, et al. NPJ Genom Med. 2022 Oct 20;7(1):60. doi: 10.1038/s41525-022-00330-z. NPJ Genom Med. 2022. PMID: 36266294 Free PMC article.
Biochemical functions of coenzyme Q10.
Crane FL. Crane FL. J Am Coll Nutr. 2001 Dec;20(6):591-8. doi: 10.1080/07315724.2001.10719063. J Am Coll Nutr. 2001. PMID: 11771674 Review.
Regulation of coenzyme Q biosynthesis.
Appelkvist EL, Aberg F, Guan Z, Parmryd I, Dallner G. Appelkvist EL, et al. Mol Aspects Med. 1994;15 Suppl:s37-46. doi: 10.1016/0098-2997(94)90011-6. Mol Aspects Med. 1994. PMID: 7752843 Review.