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Aminoacyl-tRNA synthetase deficiencies in search of common themes
PURPOSE: Pathogenic variations in genes encoding aminoacyl-tRNA synthetases (ARSs) are increasingly associated with human disease. Clinical features of autosomal recessive ARS deficiencies appear very diverse and without apparent logic. We searched for common clinical patterns to improve disease rec...
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| Veröffentlicht in: | Genet Med |
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| Hauptverfasser: | , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group US
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7091658/ https://ncbi.nlm.nih.gov/pubmed/29875423 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0048-y |
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