http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_head http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion http://identifiers.org/ncbigene/2022 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/C0039445 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/gene-disease-association.ttl#DGNe479607698acc1b35d369c245ad398de http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2022 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe479607698acc1b35d369c245ad398de http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0039445 http://rdf.disgenet.org/gene-disease-association.ttl#DGNe479607698acc1b35d369c245ad398de http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_provenance http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion http://purl.org/dc/terms/description [Additionally, due to the lack of large pedigrees suitable for linkage analysis, and since SMAD4 germline mutations have been reported in families with combined HHT and juvenile polyposis, we screened this gene and five other genes involved in the TGF-beta/BMP pathway in the patients without mutation of ENG or ACVRL1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16705692 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#gad-20130706 http://purl.org/pav/2.0/importedOn 2013-07-06 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/dc/terms/created 2014-10-02T12:32:20+02:00 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP45112.RAkddK5FAmPaufqVojkYNzXRxwtiJve4TLpfqS3T7PZgQ http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0