Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance.
- NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_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." NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance.
- NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_assertion evidence source_evidence_curated NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance.
- NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_assertion SIO_000772 9152842 NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance.
- NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_assertion wasDerivedFrom uniprot-2016 NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance.
- NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_assertion wasGeneratedBy ECO_0000218 NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9381.RAv5o4ncJMd9y2Zswtle1Kyc5qg78F_AAGPVD7SecM_ro130_provenance.