http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#head
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#assertion
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#provenance
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#assertion
http://rdf.disgenet.org/resource/gda/DGN4ba17dfcc36f85c43e655ff512f6fdba
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/9499
http://rdf.disgenet.org/resource/gda/DGN4ba17dfcc36f85c43e655ff512f6fdba
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1836607
http://rdf.disgenet.org/resource/gda/DGN4ba17dfcc36f85c43e655ff512f6fdba
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#provenance
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#assertion
http://purl.org/dc/terms/description
[Our findings i) indicate that main protein components of aggregates belong to a network of interacting proteins, ii) provide new insights into the complex regulation of protein degradation in myotilinopathy that may be relevant for new treatment strategies, iii) imply a combination of a toxic gain-of-function leading to myotilin-positive protein aggregates and a loss-of-function caused by a shift in subcellular distribution with a deficiency of myotilin at Z-discs that impairs the integrity of myofibrils, and iv) demonstrate that proteomic analysis can be helpful in differential diagnosis of protein aggregate myopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#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/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26842778
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#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/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/dc/terms/created
2017-10-17T13:17:45+02:00
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1188501.RAnjVjtzUSDmZ9Opt5MVJJkDyW1yVK2wpT3A2LC8M-YiU
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