Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance.
- NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_assertion description "[Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment, a phenotype reminiscent of Vohwinkel syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance.
- NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_assertion evidence source_evidence_literature NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance.
- NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_assertion SIO_000772 17993581 NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance.
- NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_assertion wasDerivedFrom befree-20150227 NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance.
- NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_assertion wasGeneratedBy ECO_0000203 NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP426445.RADO_D25h31SWYfdR4xBMRAkqK7xuk7J86N-dkd8po9F8130_provenance.