http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#head http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#assertion http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#provenance http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#assertion http://rdf.disgenet.org/resource/gda/DGN5865a4ac8ae547004e50490d811e4c21 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/58 http://rdf.disgenet.org/resource/gda/DGN5865a4ac8ae547004e50490d811e4c21 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0270971 http://rdf.disgenet.org/resource/gda/DGN5865a4ac8ae547004e50490d811e4c21 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#provenance http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#assertion http://purl.org/dc/terms/description [We conclude that mutations in ACTA1 can cause pathologic features consistent with myofibrillar myopathy, and mutations in ACTA1 should be considered in patients with severe congenital hypotonia associated with muscle weakness and features of myofibrillar myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#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/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25913210 http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#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/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/dc/terms/created 2017-10-17T13:10:15+02:00 http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP10411.RAdqMkBzjXODSUBse0QmOlsl0aqoALwsKJI7e48NnrD3U 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