Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_assertion> ?p ?o ?g. }
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- NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_assertion type Assertion NP690274.RAXTEjJfxRDHEgNqvnWOTd199wtiF5jBeOxBLxUcEWEOk130_head.
- 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.