http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#head
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#assertion
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#provenance
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#assertion
http://rdf.disgenet.org/resource/gda/DGNaa217727b65a87be49876c3a59ee30cd
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3480
http://rdf.disgenet.org/resource/gda/DGNaa217727b65a87be49876c3a59ee30cd
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0036857
http://rdf.disgenet.org/resource/gda/DGNaa217727b65a87be49876c3a59ee30cd
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#provenance
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#assertion
http://purl.org/dc/terms/description
[Clinical work-up of this newly identified family, which constitutes the smallest (0.095 Mb) pure 15q26.3 interstitial deletion to date, confirms that disruption of the IGF1R gene does not induce major organ malformation or severe mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#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/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/19955558
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#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/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/dc/terms/created
2017-10-17T13:13:39+02:00
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP546946.RA1vk7u7aLf189bUr9Eq8H0-SqKi0qN1nkmZM-YGwKtAs
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