http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#head
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#assertion
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#provenance
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#assertion
http://rdf.disgenet.org/resource/gda/DGN9d9d67799a6e0b534da2174c8643d4b4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4069
http://rdf.disgenet.org/resource/gda/DGN9d9d67799a6e0b534da2174c8643d4b4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0031256
http://rdf.disgenet.org/resource/gda/DGN9d9d67799a6e0b534da2174c8643d4b4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#provenance
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#assertion
http://purl.org/dc/terms/description
[The phenotype, reported for the first time in this extended kindred, contrasts with that of an apparently unrelated family carrying the same mutation who presented with spontaneous hepatic haemorrhage and rupture, and with the manifestations in a family with the lysozyme Ile56Thr variant who presented with dermal petechiae before proceeding to fatal visceral amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#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/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10534505
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#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/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/dc/terms/created
2017-10-17T13:14:22+02:00
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP657834.RAAd79S3_EJtZwgaLdUXnsGxggif4dyHdKtP4ymKz32rg
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