Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance.
- NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_assertion description "[Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance.
- NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_assertion evidence source_evidence_curated NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance.
- NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_assertion SIO_000772 14584882 NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance.
- NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_assertion wasDerivedFrom uniprot-2016 NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance.
- NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_assertion wasGeneratedBy ECO_0000218 NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3072.RAE-_CgsI4PR8mVb1pfK7LGJJ3POvOj87JNHxI0O-ne2o130_provenance.