http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_head http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_assertion http://identifiers.org/ncbigene/182 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/C0005940 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/gene-disease-association.ttl#DGNd262e79448082710eca9df0723fba444 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/182 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd262e79448082710eca9df0723fba444 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0005940 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd262e79448082710eca9df0723fba444 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_assertion http://purl.org/dc/terms/description [All four mutations lie within conserved regions of the gene and cause translational frameshifts, resulting in gross alterations of the protein product Patients with cytogenetically detectable deletions including JAG1 have Alagille syndrome, supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagille syndrome phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9207788 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000218 http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://purl.org/pav/2.0/importedOn 2013-07-24 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000205 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/dc/terms/created 2014-10-02T12:32:08+02:00 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP20611.RArByMHJeCQGov8viwKhBSbizB1kK5U2ZDw9oTcppJfbM http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0