Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP2329.RAZFNJCMfZ8M0Rb23VH3kPxhPzW4cM0fUBpmWIf6FeF7Y#assertion> ?p ?o ?g. }
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- assertion description "[A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 22009580 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.