Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance.
- NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_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." NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance.
- NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_assertion evidence source_evidence_curated NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance.
- NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_assertion SIO_000772 22243965 NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance.
- NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_assertion wasDerivedFrom ctd_human-2016 NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance.
- NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_assertion wasGeneratedBy ECO_0000218 NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP30651.RAa5zztAOrw5GPHGYeTjtRB9O6gVfRmflVyYhDVDxqXN0130_provenance.