http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#head
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#assertion
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#provenance
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#assertion
http://rdf.disgenet.org/resource/gda/DGN12818d5f634d6ced7f2650e68f5a6a04
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/51172
http://rdf.disgenet.org/resource/gda/DGN12818d5f634d6ced7f2650e68f5a6a04
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0033788
http://rdf.disgenet.org/resource/gda/DGN12818d5f634d6ced7f2650e68f5a6a04
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#provenance
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#assertion
http://purl.org/dc/terms/description
[We hypothesize that rare non-synonymous coding variants in GNPTAB, GNPTG, and NAGPA may account for as much as 16% of persistent stuttering cases, and that variants in GNPTAB and GNPTG are at different sites and may in general, cause less severe effects on protein function than those in ML II alpha/beta and ML III alpha/beta/gamma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#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/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26130485
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#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/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/dc/terms/created
2017-10-17T13:18:30+02:00
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1308210.RAJijrjIjmzf-ZYD70_tXSFZ8L6cTqeKFoRw8leVThx0c
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