| 1 | AARS2, COXPD12, COXPD8, DARS2, EARS2, LBSL
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| Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.
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| Fine AS, Nemeth CL, Kaufman ML, Fatemi A.
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| J Neurodev Disord. Dec 16;11(1):29. doi: 10.1186/s11689-019-9292-y 2019
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| 2 | AARS2, COXPD8
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| Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
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| Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H.
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| Front Genet. Feb 6;6:21. doi: 10.3389/fgene.2015.00021. eCollection 2015 2015
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| 3 | AARS2, COXPD8
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| Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
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| Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A.
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| Am J Hum Genet 88(5):635-42. Epub 2011 May 5.
2011
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