http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_head http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_assertion http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_provenance http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_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/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/resource/gda/DGN386a257a657e6c170aa91d6fc526a286 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2200 http://rdf.disgenet.org/resource/gda/DGN386a257a657e6c170aa91d6fc526a286 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1458156 http://rdf.disgenet.org/resource/gda/DGN386a257a657e6c170aa91d6fc526a286 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_provenance http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_assertion http://purl.org/dc/terms/description [Mosaicism confined to germ-line cells has rarely been reported, and this report of mosaicism for the FBN1 mutation in MFS represents an important case, in light of the evaluation of the recurrence risk in genetic counseling of families with MFS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10090884 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/dc/terms/created 2015-08-25T14:41:29+02:00 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP395993.RAJQmA9jJDfX0gDgLsOBYZNokJHRpfNgEtTU7QQTZ10hk http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0