Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP283050.RAF4ox_9w7C0oaBz336ouH0ABTlYKOI090jA4GFtjfPxs#assertion> ?p ?o ?g. }
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- assertion description "[Mutations of the DCTN1 gene have been previously associated with amyotrophic lateral sclerosis and with Perry syndrome, a rare autosomal dominant disorder characterized by weight loss, parkinsonism, central hypoventilation, and psychiatric disturbances.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 24343258 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.