Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.
- NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion wasGeneratedBy ECO_0000218 NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.
- NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion wasDerivedFrom uniprot-20130724 NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.
- NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion SIO_000772 11857544 NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.
- NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion evidence source_evidence_curated NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.
- NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion description "[In patients with severe childhood CHS, we found only functionally null mutant CHS1 alleles, whereas in patients with the adolescent and adult forms of CHS we also found missense mutant alleles that likely encode CHS1 polypeptides with partial function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.