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Year | Number of Results |
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2008 | 1 |
2010 | 1 |
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2024 | 0 |
PubMed (OMIM) for id: 22868
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Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.
Hum Mutat. 2020 May;41(5):961-972. doi: 10.1002/humu.23985. Epub 2020 Jan 30.
Hum Mutat. 2020.
PMID: 31944455
Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome.
Yoo DH, Choi YC, Nam DE, Choi SS, Kim JW, Choi BO, Chung KW.
Yoo DH, et al.
Mitochondrion. 2017 Jul;35:54-58. doi: 10.1016/j.mito.2017.05.005. Epub 2017 May 9.
Mitochondrion. 2017.
PMID: 28499982
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Fast kinase domain-containing protein 3 is a mitochondrial protein essential for cellular respiration.
Simarro M, Gimenez-Cassina A, Kedersha N, Lazaro JB, Adelmant GO, Marto JA, Rhee K, Tisdale S, Danial N, Benarafa C, Orduña A, Anderson P.
Simarro M, et al.
Biochem Biophys Res Commun. 2010 Oct 22;401(3):440-6. doi: 10.1016/j.bbrc.2010.09.075. Epub 2010 Sep 24.
Biochem Biophys Res Commun. 2010.
PMID: 20869947
Free PMC article.
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FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M.
Ghezzi D, et al.
Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4.
Am J Hum Genet. 2008.
PMID: 18771761
Free PMC article.
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Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
Nagase T, et al.
DNA Res. 1999 Feb 26;6(1):63-70. doi: 10.1093/dnares/6.1.63.
DNA Res. 1999.
PMID: 10231032
Free article.
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