http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_head
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_assertion
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_provenance
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_assertion
http://identifiers.org/ncbigene/10558
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/C0870082
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/DGNe55c8e23a51e4059ea4cc8cf2c29e5c9
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/10558
http://rdf.disgenet.org/resource/gda/DGNe55c8e23a51e4059ea4cc8cf2c29e5c9
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0870082
http://rdf.disgenet.org/resource/gda/DGNe55c8e23a51e4059ea4cc8cf2c29e5c9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_provenance
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_assertion
http://purl.org/dc/terms/description
[These families comprised six multigenerational families, including two previously reported families not linked to the SPTLC1 locus on chromosome 9 and one multigenerational family with a complicated hereditary sensory neuropathy syndrome with associated palmar plantar keratosis, ataxia and spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_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/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12207934
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_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/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/dc/terms/created
2015-08-25T14:46:14+02:00
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP847108.RAkKW0NHORCpj2hLxF39Ovrdc6_cU80hL6I08JYFnOrH4
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