http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#head
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#assertion
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#provenance
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#assertion
http://rdf.disgenet.org/resource/gda/DGN8c37171c3b224b1d9dce498e7202c4d5
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1399
http://rdf.disgenet.org/resource/gda/DGN8c37171c3b224b1d9dce498e7202c4d5
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0000768
http://rdf.disgenet.org/resource/gda/DGN8c37171c3b224b1d9dce498e7202c4d5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001123
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#provenance
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#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/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#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/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25658046
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#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/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/dc/terms/created
2017-10-17T13:11:44+02:00
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP241214.RAXv_kaRvCuyLdzF3YTvUgkkB0mhqqiKAr5Os8t1U0_84
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