http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#head
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#assertion
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#provenance
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#assertion
http://rdf.disgenet.org/resource/gda/DGN77cc7d906989336dcbebc3b4def5106e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3785
http://rdf.disgenet.org/resource/gda/DGN77cc7d906989336dcbebc3b4def5106e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0220669
http://rdf.disgenet.org/resource/gda/DGN77cc7d906989336dcbebc3b4def5106e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#provenance
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#assertion
http://purl.org/dc/terms/description
[Here, we describe a four-generation BFNC family carrying a novel mutation within the distal, unconserved C-terminal domain of KCNQ2, a 1-bp deletion, 2513delG, in codon 838 predicting substitution of the last seven and extension by another 56 amino acids.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#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/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10482260
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#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/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/dc/terms/created
2017-10-17T13:14:07+02:00
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP617947.RA3DJg568cV83GVtq42HSh4Icj5BRLu0A8k917_T81GGI
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