http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#head
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#assertion
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#provenance
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#assertion
http://rdf.disgenet.org/resource/gda/DGN350a7355d297ae5b178e657b3d81be29
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/21
http://rdf.disgenet.org/resource/gda/DGN350a7355d297ae5b178e657b3d81be29
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0034069
http://rdf.disgenet.org/resource/gda/DGN350a7355d297ae5b178e657b3d81be29
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#provenance
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#assertion
http://purl.org/dc/terms/description
[The determination of an ABCA3 mutation in one case of severe pulmonary fibrosis with significant dystrophy of the brain and the identification of four highly similar archival cases and eight others with partial pathological findings supports the designation of an independent disorder, here referred to as the cerebropulmonary dysgenetic syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#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/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18603241
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#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/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/dc/terms/created
2017-10-17T13:10:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP3836.RApdB-q1A3I8rM0A5Sbp10M4z3Y-HVD2uc0E16jAtewh8
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