http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#head http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#assertion http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#provenance http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#assertion http://rdf.disgenet.org/resource/gda/DGN0a35b167b77fa993ea33278f28ff7ebd http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1130 http://rdf.disgenet.org/resource/gda/DGN0a35b167b77fa993ea33278f28ff7ebd http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007965 http://rdf.disgenet.org/resource/gda/DGN0a35b167b77fa993ea33278f28ff7ebd http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#provenance http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11857544 http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/dc/terms/created 2017-10-17T13:11:34+02:00 http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214615.RA80HXhbkax5ROMFHxQbZBCAo7xFnUZVazFdlkAlcS7MA http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0