http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_head http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_provenance http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion http://identifiers.org/ncbigene/4488 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/C1858160 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/DGNf0f446c33163eed321b3b116e2f5cd3d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4488 http://rdf.disgenet.org/resource/gda/DGNf0f446c33163eed321b3b116e2f5cd3d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1858160 http://rdf.disgenet.org/resource/gda/DGNf0f446c33163eed321b3b116e2f5cd3d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_provenance http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion http://purl.org/dc/terms/description [This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_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/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10767351 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_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/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/dc/terms/created 2016-05-13T12:43:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP281313.RAqr60gq2KwG6YDhExCo0QqTkhwAu0gF4mGRivcE3H54A 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