Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP295056.RAwPmlepA02_GbSLWUCe1FVH2ymGUZyW_dnG2shyPUUC8#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in DYNC1H1 are associated with spinal muscular atrophy (SMA), hereditary motor and sensory neuropathy (HMSN), cortical malformations, or a combination of these.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25512093 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.