Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance.
- NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_assertion description "[Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance.
- NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_assertion evidence source_evidence_curated NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance.
- NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_assertion SIO_000772 12694234 NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance.
- NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_assertion wasDerivedFrom uniprot-20130724 NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance.
- NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_assertion wasGeneratedBy ECO_0000218 NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1371.RAQ4F3HTVbll41dggCGaG4XAOr5OL0AJWvJdOiDwG5oV4130_provenance.