Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance.
- NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_assertion description "[The majority of patients with atypical mutations had diagnoses of Pfeiffer syndrome or Crouzon syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance.
- NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_assertion evidence source_evidence_curated NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance.
- NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_assertion SIO_000772 11781872 NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance.
- NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_assertion wasDerivedFrom uniprot-2016 NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance.
- NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_assertion wasGeneratedBy ECO_0000218 NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1807.RAYqfh0XwXz5rEYnervn4YaPpGttSMlw7x2x-XxL7nZj8130_provenance.