http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_head http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_assertion http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_assertion http://identifiers.org/ncbigene/6010 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0854723 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN340d7633d7e70d05ac839fba4a19b070 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6010 http://rdf.disgenet.org/resource/gda/DGN340d7633d7e70d05ac839fba4a19b070 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0854723 http://rdf.disgenet.org/resource/gda/DGN340d7633d7e70d05ac839fba4a19b070 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_provenance http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_assertion http://purl.org/dc/terms/description [In vitro evidence had suggested that transducin is activated by the Gly90Asp mutation in the absence of both the retinal chromophore and light, termed constitutive activity. The apparent preservation of functioning rods despite extensive and lifelong night-blindness in this kindred is inconsistent with one current hypothesis that chronic rod activation from constitutively active mutant rhodopsin necessarily contributes significantly to photoreceptor demise in human retinal dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7846071 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/dc/terms/created 2016-05-13T12:51:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1323659.RA-7mymHJnfZs6mXXoN9_GOaQpnL2muVj5SVDqn0-isXE http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0