http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_head http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_assertion http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_provenance http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_assertion http://identifiers.org/ncbigene/387733 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/C1970414 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/DGNf2ec40ada2e7d19d42ff912ccc0be871 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/387733 http://rdf.disgenet.org/resource/gda/DGNf2ec40ada2e7d19d42ff912ccc0be871 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1970414 http://rdf.disgenet.org/resource/gda/DGNf2ec40ada2e7d19d42ff912ccc0be871 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_provenance http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_assertion http://purl.org/dc/terms/description [We report a 5-year-old child with clinical features of OI type III or severe OI type IV (characteristic facies, gray sclerae, typical fractures) and absence of classical features of OI type V with a de novo recurrent IFITM5 mutation (c.-14C > T), now typical of OI type V. This highlights the variability of OI caused by IFITM5 mutations and suggests screening for mutations in this gene in most cases of OI where type 1 collagen mutations are absent.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_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/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23674381 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_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/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/dc/terms/created 2016-05-13T12:49:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1077735.RAo615x8YaBqNg90T_eOAlH-WWk_8iKbMQRjw_diJiTKw 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