http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#head
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#assertion
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#provenance
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#assertion
http://rdf.disgenet.org/resource/gda/DGNacf9dccf525be910c87bd8b2f5c8f2a5
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7846
http://rdf.disgenet.org/resource/gda/DGNacf9dccf525be910c87bd8b2f5c8f2a5
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1879312
http://rdf.disgenet.org/resource/gda/DGNacf9dccf525be910c87bd8b2f5c8f2a5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#provenance
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#assertion
http://purl.org/dc/terms/description
[More recently, de novo missense mutations in the alpha-tubulin 1a gene (TUBA1A) located on chromosome 12q13.12, have also been associated with more or less severe defects of cortical development, resulting in complete agyria in the most severe cases of lissencephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#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/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20376468
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#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/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/dc/terms/created
2017-10-17T13:17:22+02:00
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1127030.RArNVeeSdkU2tdd7x7JsYevb8J3Yd9EOENuiwgFiwJb6c
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