http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_head
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_assertion
http://identifiers.org/ncbigene/3547
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/C0033377
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/DGNc10f16da4586c0b4986ce43eaa3562f0
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3547
http://rdf.disgenet.org/resource/gda/DGNc10f16da4586c0b4986ce43eaa3562f0
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0033377
http://rdf.disgenet.org/resource/gda/DGNc10f16da4586c0b4986ce43eaa3562f0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_assertion
http://purl.org/dc/terms/description
[Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_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/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24326587
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_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/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/dc/terms/created
2016-05-13T12:50:21+02:00
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1135639.RAuANt5s4mVFtrarfuorEiUvJRnFw96jbr2hpSxowPav0
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