http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#head http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#assertion http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#provenance http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#assertion http://rdf.disgenet.org/resource/gda/DGN785705afe9ad84b9247108cfc949ca6a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4359 http://rdf.disgenet.org/resource/gda/DGN785705afe9ad84b9247108cfc949ca6a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0011195 http://rdf.disgenet.org/resource/gda/DGN785705afe9ad84b9247108cfc949ca6a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#provenance http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#assertion http://purl.org/dc/terms/description [Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III (HMSN III), and mild phenotype CMT1B presented mostly with only decreased or absent reflexes, foot deformities and mild or even absent atrophies in the lower limbs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#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/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20456450 http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#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/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/dc/terms/created 2017-10-17T13:14:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP707725.RAxriZu-5_w-d4FhZ-qEDyc5H3fvCn2CjJMDsNNo4lxOQ 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