Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance.
- NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_assertion description "[A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance.
- NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_assertion evidence source_evidence_curated NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance.
- NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_assertion SIO_000772 10694921 NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance.
- NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_assertion wasDerivedFrom uniprot-2016 NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance.
- NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_assertion wasGeneratedBy ECO_0000218 NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP665.RASq11EkDTjZYUom23XmlNmH-1m2OmLSBDZRh6zIZxlTg130_provenance.