http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_head http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_assertion http://identifiers.org/ncbigene/2200 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/C0575158 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/DGN430114077d93df13752ace23ed031c9a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2200 http://rdf.disgenet.org/resource/gda/DGN430114077d93df13752ace23ed031c9a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0575158 http://rdf.disgenet.org/resource/gda/DGN430114077d93df13752ace23ed031c9a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_assertion http://purl.org/dc/terms/description [To our knowledge, this is the first report of a family with an FBN1 gene mutation cosegregating with an unusual autosomal dominant progressive kyphoscoliosis of variable severity, together with radiological abnormalities of the spine, and some skeletal but no ocular or cardiac manifestations of Marfan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_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/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11992479 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_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/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/dc/terms/created 2016-05-13T12:44:25+02:00 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP353901.RADSaSauV5rrTROBKisvRiMINkwOXpZcekBhw4OvQjyUQ 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