http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_head http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_assertion http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_provenance http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_assertion http://identifiers.org/ncbigene/1292 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/C1834674 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/DGNff58f7d62fc557129a62d3b00c8877c3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1292 http://rdf.disgenet.org/resource/gda/DGNff58f7d62fc557129a62d3b00c8877c3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1834674 http://rdf.disgenet.org/resource/gda/DGNff58f7d62fc557129a62d3b00c8877c3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_provenance http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_assertion http://purl.org/dc/terms/description [Skin abnormalities, including predisposition to keratosis pilaris and abnormal scarring, were described in Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) patients carrying mutations in COL6A1, COL6A2, and COL6A3 genes, whereas COL6A5, previously designated as COL29A1, was linked to atopic dermatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20882040 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/dc/terms/created 2015-08-25T14:40:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP320388.RAQuuyxO6pzDNDV-iqvJtiOs8G9VvBKG4rFs8Sfg-SpX4 http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0