http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_head
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_assertion
http://identifiers.org/ncbigene/1399
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/C0018798
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/DGN269523e0fd0b526c384e6a7b63bf2525
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1399
http://rdf.disgenet.org/resource/gda/DGN269523e0fd0b526c384e6a7b63bf2525
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0018798
http://rdf.disgenet.org/resource/gda/DGN269523e0fd0b526c384e6a7b63bf2525
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_assertion
http://purl.org/dc/terms/description
[We found that the spectrum of heart defects depends on Crkl expression, occurring with analogous malformations to that in human individuals, suggesting that haploinsufficiency of CRKL could be responsible for the etiology of CTDs in individuals with nested distal deletions and might act as a genetic modifier of individuals with the typical 3 Mb deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_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/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25658046
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_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/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/dc/terms/created
2016-05-13T12:51:18+02:00
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1261560.RAbJlS3FME33VPQB4rLpLST6KccLxA7cPp3yh-6_bz4NA
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