Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_assertion> ?p ?o ?g. }
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- NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_assertion type Assertion NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_head.
- NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_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." NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_provenance.
- NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_assertion evidence source_evidence_literature NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_provenance.
- NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_assertion SIO_000772 7643352 NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_provenance.
- NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_assertion wasDerivedFrom befree-2016 NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_provenance.
- NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_assertion wasGeneratedBy ECO_0000203 NP1316317.RAm9VEZ_IFRNmpIFuJpZdzXQerrE0738crW53_mp5FaUQ130_provenance.