http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#head
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#assertion
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#provenance
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#assertion
http://rdf.disgenet.org/resource/gda/DGN9e2ac3aefbfacfe60723b8b9015fd563
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6010
http://rdf.disgenet.org/resource/gda/DGN9e2ac3aefbfacfe60723b8b9015fd563
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0035334
http://rdf.disgenet.org/resource/gda/DGN9e2ac3aefbfacfe60723b8b9015fd563
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#provenance
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#assertion
http://purl.org/dc/terms/description
[Here we present an association between the clinical presentations of adRP and sequence variants involving novel M216L mutation in the RHO gene together with nonsynonimous sequence changes R872H, N985Y, A1670T, S1691P, C2033Y, and synonimous Q1725Q with novel, N1521N, and T1733T SNPs in the RP1 gene of uncertain pathogenicity in a Turkish family with autosomal dominant retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#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/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22321012
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#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/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/dc/terms/created
2017-10-17T13:15:58+02:00
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP908188.RAFwdsSuWnSsz9VwzlgKKeV1ULgY5o3uC5jaYkYFBURSY
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