Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion> ?p ?o ?g. }
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- NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion type Assertion NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_head.
- 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.