Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP218422.RAvjYmmOl-6PbRC9v9bs2ANSFuccETMSpTcI3-dO5skoo#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18755304 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.