http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#head http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#assertion http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#provenance http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#assertion http://rdf.disgenet.org/resource/gda/DGN9bfee53400978d08e74adb00f7016951 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6935 http://rdf.disgenet.org/resource/gda/DGN9bfee53400978d08e74adb00f7016951 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339284 http://rdf.disgenet.org/resource/gda/DGN9bfee53400978d08e74adb00f7016951 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#provenance http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#assertion http://purl.org/dc/terms/description [Based on the observations of decreased gene expression levels, association with ZEB1-related pathways, and the report of corneal opacities in Csrp2bp(tm1a(KOMP)Wtsi) heterozygotes and embryonic lethality in nulls, we postulate that duplication of the 78 Kbp segment leading to haploinsufficiency of Csrp2bp is responsible for the mouse PPCD1 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#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/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20808945 http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#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/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/dc/terms/created 2017-10-17T13:16:35+02:00 http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1003265.RAmozX2LQnUtxtb3arGmpjeGNZRXdw1EUMgUjvFERl2ok 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