Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance.
- NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_assertion description "[Mutations in the chloride channel 7 gene (CLCN7) cause osteopetrosis, and polymorphisms of CLCN7 in the non-disease allele are associated with penetrance of the autosomal dominant osteopetrosis (ADO) phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance.
- NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_assertion evidence source_evidence_literature NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance.
- NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_assertion SIO_000772 18755304 NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance.
- NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_assertion wasDerivedFrom befree-2016 NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance.
- NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_assertion wasGeneratedBy ECO_0000203 NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance.
- befree-2016 importedOn "2016-02-19" NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_provenance.