http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#head http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#assertion http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#provenance http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#assertion http://rdf.disgenet.org/resource/gda/DGNf037fb8d7faec4ed31e3464f6f80a433 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/51172 http://rdf.disgenet.org/resource/gda/DGNf037fb8d7faec4ed31e3464f6f80a433 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2673377 http://rdf.disgenet.org/resource/gda/DGNf037fb8d7faec4ed31e3464f6f80a433 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#provenance http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#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/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#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/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26130485 http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#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/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/dc/terms/created 2017-10-17T13:18:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1308208.RAgVsizVdT9c8Nu_z4esnoZYEjm-NL5ksnzHXf55HTxng 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