http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_head
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_assertion
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_assertion
http://identifiers.org/ncbigene/3918
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612
http://linkedlifedata.com/resource/umls/id/C0079301
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057
http://rdf.disgenet.org/resource/gda/DGNd41d0796ab9537c2e114ac58ff571377
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3918
http://rdf.disgenet.org/resource/gda/DGNd41d0796ab9537c2e114ac58ff571377
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0079301
http://rdf.disgenet.org/resource/gda/DGNd41d0796ab9537c2e114ac58ff571377
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_provenance
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_assertion
http://purl.org/dc/terms/description
[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10951251
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/dc/terms/created
2016-05-13T12:43:58+02:00
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP292604.RAGXpUBUWOmCeK-vRClxqn-G_qs1taSLBtS66DobBSaRQ
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0