http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#head
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#assertion
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#provenance
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#assertion
http://rdf.disgenet.org/resource/gda/DGNbd2c2aa90aeefbe6d5522797998f7802
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5339
http://rdf.disgenet.org/resource/gda/DGNbd2c2aa90aeefbe6d5522797998f7802
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0026850
http://rdf.disgenet.org/resource/gda/DGNbd2c2aa90aeefbe6d5522797998f7802
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#provenance
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#assertion
http://purl.org/dc/terms/description
[The recessive simplex types include EB with muscular dystrophy due to abnormal plectin, EB without muscular dystrophy in patients homozygous for K14 gene abnormalities, and skin fragility syndrome, with formation of acantholytic vesicles within the epidermis due to PKP1 gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#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/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12677430
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#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/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/dc/terms/created
2017-10-17T13:15:28+02:00
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP829981.RA4NvQtzuMzlwLuE-uuw_fAr_KhJnkf8rWwYiyby8yZoc
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