http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#head http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#assertion http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#provenance http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#assertion http://rdf.disgenet.org/resource/gda/DGNd1b41af298f59c7cd1c6f016507b2883 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4284 http://rdf.disgenet.org/resource/gda/DGNd1b41af298f59c7cd1c6f016507b2883 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0521707 http://rdf.disgenet.org/resource/gda/DGNd1b41af298f59c7cd1c6f016507b2883 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#provenance http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#assertion http://purl.org/dc/terms/description [In summary, our study presented genetic and functional evidence linking the new MIP mutation of G215D to autosomal dominant congenital cataracts, which adds to the list of MIP mutations linked to congenital progressive punctate cataracts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#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/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25033405 http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#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/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/dc/terms/created 2017-10-17T13:14:33+02:00 http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP686141.RAmsW4kxo1EKNEBtUF8pae1uCJPZxaxdlHGlk7KNkDkNo 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