Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion description "[A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion evidence source_evidence_curated NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion SIO_000772 17993581 NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion wasDerivedFrom uniprot-2016 NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion wasGeneratedBy ECO_0000218 NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.