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MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNA with cognate amino acids during protein translation. Non-canonical functions are increasingly recognized, and include transcription and translation control and extracellular signaling. Monoallelic muta...
Shranjeno v:
| izdano v: | Eur J Med Genet |
|---|---|
| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2018
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6133759/ https://ncbi.nlm.nih.gov/pubmed/29655802 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2018.04.005 |
| Oznake: |
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