http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_head http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_assertion http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_provenance http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_assertion http://identifiers.org/ncbigene/26580 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/C0026838 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/DGNb26a35dc5864c899384308059c5b6171 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/26580 http://rdf.disgenet.org/resource/gda/DGNb26a35dc5864c899384308059c5b6171 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026838 http://rdf.disgenet.org/resource/gda/DGNb26a35dc5864c899384308059c5b6171 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_provenance http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_assertion http://purl.org/dc/terms/description [Interestingly, both families show a clinical phenotype different from classical Silver syndrome, and in some patients the phenotype is also different from distal HMN V. Patients in the first family had marked spasticity in the lower limbs and very striking distal amyotrophy that always started in the legs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_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/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15242882 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_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/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/dc/terms/created 2016-05-13T12:45:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP451329.RAVQtyRPREnZXgkZZwDCeb-nThzE3nsUVScxIlWALSv18 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