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Year | Number of Results |
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2017 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
PubMed (cited) for id: 618567
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MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
J Med Genet. 2023 Apr;60(4):352-358. doi: 10.1136/jmg-2022-108521. Epub 2022 Aug 24.
J Med Genet. 2023.
PMID: 36002240
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M.
Garone C, et al.
Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. doi: 10.1093/hmg/ddx314.
Hum Mol Genet. 2017.
PMID: 28973171
Free PMC article.
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