http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#head
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#assertion
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#provenance
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#assertion
http://rdf.disgenet.org/resource/gda/DGNe7221b32e0f734cd7bdec090bd92997e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/23203
http://rdf.disgenet.org/resource/gda/DGNe7221b32e0f734cd7bdec090bd92997e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0007758
http://rdf.disgenet.org/resource/gda/DGNe7221b32e0f734cd7bdec090bd92997e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#provenance
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#assertion
http://purl.org/dc/terms/description
[We report the identification of mutations in PMPCA in 17 patients from four families affected with cerebellar ataxia, including the large Lebanese family previously described with autosomal recessive cerebellar ataxia and short stature of Norman type and localized to chromosome 9q34 (OMIM #213200).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#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/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25808372
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#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/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/dc/terms/created
2017-10-17T13:18:11+02:00
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1255416.RA_rc0-l1qOzk1IlkA3SV0f9tlHh5VlOL_LjYeGoeIGB8
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