http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_head http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_assertion http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_provenance http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_assertion http://identifiers.org/ncbigene/256076 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/C0013595 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/DGN6e6c40dd4af34a963c111e1ce608dbae http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/256076 http://rdf.disgenet.org/resource/gda/DGN6e6c40dd4af34a963c111e1ce608dbae http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013595 http://rdf.disgenet.org/resource/gda/DGN6e6c40dd4af34a963c111e1ce608dbae http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_provenance http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_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/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_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/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20882040 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_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/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/dc/terms/created 2016-05-13T12:48:07+02:00 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP842740.RAsHRE8iz5OCMVXwH7ocMQdRDJoh-Nxf0-mXWqF976IXg 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