Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.
- NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_assertion wasGeneratedBy ECO_0000218 NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.
- NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_assertion wasDerivedFrom uniprot-20150221 NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.
- NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_assertion SIO_000772 16459341 NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.
- NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_assertion evidence source_evidence_curated NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.
- NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_assertion description "[DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4168.RAFWmNlpPMQN-bgWD1y8OHYOAg7Zj6XbBgo2AR3FZ-03w130_provenance.