http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#head http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#assertion http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#provenance http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#assertion http://rdf.disgenet.org/resource/gda/DGN4b364b47eecd4e3f9113e69aeb746e8f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10381 http://rdf.disgenet.org/resource/gda/DGN4b364b47eecd4e3f9113e69aeb746e8f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1302995 http://rdf.disgenet.org/resource/gda/DGN4b364b47eecd4e3f9113e69aeb746e8f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#provenance http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#assertion http://purl.org/dc/terms/description [Because TUBB3 mutations reported to cause CFEOM had not been associated with cortical malformations, while mutations reported to cause MCD had not been associated with CFEOM or other forms of paralytic strabismus, it was hypothesized that each set of mutations might alter microtubule function differently.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#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/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26639658 http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#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/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/dc/terms/created 2017-10-17T13:17:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1214107.RA4lC398dYQjy97hUhqzWy6K-fi7X2kEJdDH3OJvndTrM 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