Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP286613.RAHivu8OHtoYW2Dt7n2OANYPne3ZVeHLa0Dr6LkLMayCI#assertion> ?p ?o ?g. }
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- assertion description "[Restudy of the original DFN-1 family showed that the deafness is part of a progressive X linked recessive syndrome, which includes visual disability leading to cortical blindness, dystonia, fractures, and mental deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 7643352 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.