Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance.
- NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_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." NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance.
- NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_assertion evidence source_evidence_curated NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance.
- NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_assertion SIO_000772 17993581 NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance.
- NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_assertion wasDerivedFrom uniprot-20130724 NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance.
- NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_assertion wasGeneratedBy ECO_0000218 NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2737.RAuqqCVQBkjkqT-An-UDO01epWln3k9G5bvInxNl95-sU130_provenance.