http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#head http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#assertion http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#provenance http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#assertion http://rdf.disgenet.org/resource/gda/DGN27332408d5fd757f3207805d1b961aa8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8139 http://rdf.disgenet.org/resource/gda/DGN27332408d5fd757f3207805d1b961aa8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0600033 http://rdf.disgenet.org/resource/gda/DGN27332408d5fd757f3207805d1b961aa8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#provenance http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#assertion http://purl.org/dc/terms/description [The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12398836 http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/dc/terms/created 2017-10-17T13:17:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1137747.RAonkAYIwLpbZEpbhVp3wx15h3KFOzNlkSmzDuefEdOIE http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0