Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance.
- NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_assertion description "[Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance.
- NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_assertion evidence source_evidence_curated NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance.
- NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_assertion SIO_000772 22863007 NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance.
- NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_assertion wasDerivedFrom uniprot-2016 NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance.
- NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_assertion wasGeneratedBy ECO_0000218 NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7174.RA7T3LLEpncTfC7yoP27DC2q-I5e9RFdlVxo7ZNQUb4FI130_provenance.