http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#head
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#assertion
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#provenance
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#assertion
http://rdf.disgenet.org/resource/gda/DGN119b740b4cc3e6628ddd7c7cffedbbc3
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5339
http://rdf.disgenet.org/resource/gda/DGN119b740b4cc3e6628ddd7c7cffedbbc3
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1869123
http://rdf.disgenet.org/resource/gda/DGN119b740b4cc3e6628ddd7c7cffedbbc3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#provenance
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#assertion
http://purl.org/dc/terms/description
[Our data show that one of the isoforms of plectin plays a key role in skeletal muscle function and that disruption of the plectin 1f can cause the LGMD2 phenotype without any dermatologic component as was previously reported with mutations in constant exons of PLEC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#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/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21109228
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#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/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/dc/terms/created
2017-10-17T13:15:28+02:00
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP829945.RARs5q3hfjVJ-otybNHtQtuskIQfMCPJAbEPcl9xWOlmk
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