http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#head
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#assertion
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#provenance
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#assertion
http://rdf.disgenet.org/resource/gda/DGNd84d6edc5566194a754fc08e979860ef
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5048
http://rdf.disgenet.org/resource/gda/DGNd84d6edc5566194a754fc08e979860ef
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0524528
http://rdf.disgenet.org/resource/gda/DGNd84d6edc5566194a754fc08e979860ef
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001123
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#provenance
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#assertion
http://purl.org/dc/terms/description
[A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number of genes in 17p13.3, particularly PAFAH1B1, is associated with clinical features including facial dysmorphism, developmental delay, and autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#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/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21901111
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#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/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/dc/terms/created
2017-10-17T13:15:09+02:00
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP781714.RA7KA7_ifOA1yF3bhqoU-0ZzKLMpfNk9xrH01_psqLdp0
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