Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance.
- NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_assertion description "[Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance.
- NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_assertion evidence source_evidence_curated NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance.
- NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_assertion SIO_000772 10666208 NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance.
- NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_assertion wasDerivedFrom uniprot-2016 NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance.
- NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_assertion wasGeneratedBy ECO_0000218 NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP632.RARFgL2vA8vtL3q5D8PY8E6UEqHnwMX6uUfYLlYM20Z2s130_provenance.