Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance.
- NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_assertion description "[These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance.
- NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_assertion evidence source_evidence_literature NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance.
- NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_assertion SIO_000772 12542510 NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance.
- NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_assertion wasDerivedFrom lhgdn-20090331 NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance.
- NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_assertion wasGeneratedBy ECO_0000203 NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP144693.RA98cmex_RQjAnfvdEZ5B0Be9CushF1InPdCNg8y1Z-x0130_provenance.