Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance.
- NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_assertion wasGeneratedBy ECO_0000203 NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance.
- NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_assertion wasDerivedFrom befree-20140225 NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance.
- NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_assertion SIO_000772 15565283 NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance.
- NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_assertion evidence source_evidence_literature NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance.
- NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_assertion description "[Here, we report a novel c.423G-->T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP862629.RAUhnoP2B8aPEiG6GMoWogiucLEoxdOmY7VjXeo0jmdFY130_provenance.