Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance.
- NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_assertion description "[A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance.
- NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_assertion evidence source_evidence_curated NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance.
- NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_assertion SIO_000772 9152842 NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance.
- NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_assertion wasDerivedFrom ctd_human-20130708 NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance.
- NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_assertion wasGeneratedBy ECO_0000218 NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP15810.RAAF9RXXZb1l7A0pEmwqKu42qd8d1c2_z0vnRDF6Z3wtc130_provenance.