Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance.
- NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_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." NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance.
- NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_assertion evidence source_evidence_curated NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance.
- NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_assertion SIO_000772 14584882 NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance.
- NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_assertion wasDerivedFrom uniprot-2016 NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance.
- NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_assertion wasGeneratedBy ECO_0000218 NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP3073.RAI2TDxWXVozwGdJk6tdURWQCKW8z2LovvLgBDBVv6plk130_provenance.