Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP218348.RAnEqUbbZEqj2HgrZjsG03A5jD0N8OaIjSVXlkRYc3nJc#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 14584882 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.