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