http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#head
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#assertion
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#provenance
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#assertion
http://rdf.disgenet.org/resource/gda/DGN7d967384132d7a1bbf8de5dd0b6de88e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5265
http://rdf.disgenet.org/resource/gda/DGN7d967384132d7a1bbf8de5dd0b6de88e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0221757
http://rdf.disgenet.org/resource/gda/DGN7d967384132d7a1bbf8de5dd0b6de88e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#provenance
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#assertion
http://purl.org/dc/terms/description
[This report illustrates the diagnostic value of incorporating exon sequencing of the AAT gene into the algorithm for evaluating AATD, particularly when the AAT serum level is significantly lower than expected from IEF PI-typing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#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/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22330941
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#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/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/dc/terms/created
2017-10-17T13:15:20+02:00
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP808924.RAc9LoOyC8eTQAf4u3RGdrRSMtDVh1-48vXYeQruRSB3o
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