Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_assertion> ?p ?o ?g. }
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- NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_assertion type Assertion NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_head.
- NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_assertion description "[Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_provenance.
- NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_assertion evidence source_evidence_curated NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_provenance.
- NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_assertion SIO_000772 22243965 NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_provenance.
- NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_assertion wasDerivedFrom uniprot-2016 NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_provenance.
- NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_assertion wasGeneratedBy ECO_0000218 NP6914.RAXR9Z-17bAqS2DlZet_qVIt8Lacj9Pi-Cg7GgyJ9j0d8130_provenance.