http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_head
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
http://identifiers.org/ncbigene/554
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/C1563705
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/DGN0f94fc55fea6ba27ce1776bdbb25f015
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/554
http://rdf.disgenet.org/resource/gda/DGN0f94fc55fea6ba27ce1776bdbb25f015
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1563705
http://rdf.disgenet.org/resource/gda/DGN0f94fc55fea6ba27ce1776bdbb25f015
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
http://purl.org/dc/terms/description
[We concluded that X-linked NDI and severity of illness in this family is caused by a novel 388 bp deletion in the AVPR2 gene that is predicted to truncate the receptor protein, and also this deletion may lead to dysfunctioning in protein activity and inefficient or inadequate binding abilities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_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/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24026507
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_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/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/dc/terms/created
2016-05-13T12:50:09+02:00
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1109641.RA57EV6rmWGHNBJGPQAtfdffPt9Ie6pydMv0FpSEYs6DE
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