http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#head
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#assertion
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#provenance
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#assertion
http://rdf.disgenet.org/resource/gda/DGN54fe81b609214211323d1244824fe286
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6323
http://rdf.disgenet.org/resource/gda/DGN54fe81b609214211323d1244824fe286
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0751122
http://rdf.disgenet.org/resource/gda/DGN54fe81b609214211323d1244824fe286
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#provenance
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#assertion
http://purl.org/dc/terms/description
[We identified two non-synonymous pSNMs in SCN1A, a causal gene for Dravet syndrome, from these two unrelated adults and found that the mutant alleles were transmitted to their children, highlighting the clinical importance of detecting pSNMs in genetic counseling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#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/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25312340
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#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/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/dc/terms/created
2017-10-17T13:16:04+02:00
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP924193.RAkuJSBNmcgetVQHvfnRW5lWlH4WnE9j2tIrMq2IP9Skg
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