Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance.
- NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_assertion wasGeneratedBy ECO_0000218 NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance.
- NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_assertion wasDerivedFrom uniprot-2016 NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance.
- NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_assertion SIO_000772 11055896 NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance.
- NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_assertion evidence source_evidence_curated NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance.
- NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_assertion description "[Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1091.RAMBzjOOooe78zkEfdsAetyVMJ1OPAoHAolG4f0xFRFqs130_provenance.