http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#head
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#assertion
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#provenance
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#assertion
http://rdf.disgenet.org/resource/gda/DGN09a4836492ac48f04a9e91f76a00283f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2312
http://rdf.disgenet.org/resource/gda/DGN09a4836492ac48f04a9e91f76a00283f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0079584
http://rdf.disgenet.org/resource/gda/DGN09a4836492ac48f04a9e91f76a00283f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#provenance
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#assertion
http://purl.org/dc/terms/description
[Two loss-of-function mutations in the filaggrin (FLG) gene, R501X and 2282del4, were identified as causative for ichthyosis vulgaris in 15 affected European families, and the mode of inheritance was found to be semidominant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#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/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17573887
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#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/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/dc/terms/created
2017-10-17T13:12:46+02:00
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP406430.RAPYLu-ADDW_Zx3JECLu8r48YDyLfkj6rj8t-ElSXGQAA
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