http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#head http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#assertion http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#provenance http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#assertion http://rdf.disgenet.org/resource/gda/DGNdb49d3a31efb6069398a1a6eb7db8b73 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1130 http://rdf.disgenet.org/resource/gda/DGNdb49d3a31efb6069398a1a6eb7db8b73 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007965 http://rdf.disgenet.org/resource/gda/DGNdb49d3a31efb6069398a1a6eb7db8b73 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#provenance http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#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/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11857544 http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/dc/terms/created 2017-10-17T13:11:34+02:00 http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP214617.RALoCRTJ0WbcP2UfcNJ6t5E8Yt3dNS0l_Wtd7ORiupG2I 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