http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_head http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_assertion http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_provenance http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_assertion http://identifiers.org/ncbigene/4068 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1328840 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNcd2a17a1409fdb5d07959771b8aa6289 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4068 http://rdf.disgenet.org/resource/gda/DGNcd2a17a1409fdb5d07959771b8aa6289 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1328840 http://rdf.disgenet.org/resource/gda/DGNcd2a17a1409fdb5d07959771b8aa6289 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_provenance http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_assertion http://purl.org/dc/terms/description [Because quantitative defects in apoptosis were similar in mutation-positive relatives regardless of the presence of clinical ALPS, factors, other than modifiers of the Fas apoptosis pathway, leading to these distinctive immunophenotypic profiles most likely contribute to disease penetrance in ALPS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11588044 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/dc/terms/created 2016-05-13T12:44:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP332100.RAEUyGYrP-bhf2l8zDbwyYwgG2K3yfA2K48OKmyF0Vhxg http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0