http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_head http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_assertion http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_provenance http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_assertion http://identifiers.org/ncbigene/1278 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/C1458156 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#DGN992b8e6019bd1b1df0036b36c3181eec http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1278 http://rdf.disgenet.org/gene-disease-association.ttl#DGN992b8e6019bd1b1df0036b36c3181eec http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1458156 http://rdf.disgenet.org/gene-disease-association.ttl#DGN992b8e6019bd1b1df0036b36c3181eec http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_provenance http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_assertion http://purl.org/dc/terms/description [These results expand the range of CRTAP/LEPRE1 mutations that result in recessive OI and emphasize the importance of distinguishing recurrence of severe OI of recessive inheritance from those that result from parental germline mosaicism for COL1A1 or COL1A2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18566967 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/dc/terms/created 2014-10-02T12:38:30+02:00 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP648741.RAHApuJXKmMGUEPNUB9_fpMVIeKWpU5ZpRGA1IaC5NV74 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