http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#head
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#assertion
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#provenance
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#assertion
http://rdf.disgenet.org/resource/gda/DGNbe5a10c58040fe53fa8712ab81b58be4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4621
http://rdf.disgenet.org/resource/gda/DGNbe5a10c58040fe53fa8712ab81b58be4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0265213
http://rdf.disgenet.org/resource/gda/DGNbe5a10c58040fe53fa8712ab81b58be4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#provenance
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#assertion
http://purl.org/dc/terms/description
[We measured the contractile properties of individual skeletal muscle cells and the activation and relaxation kinetics of isolated myofibrils from two adult individuals with an R672C substitution in embryonic myosin and distal arthrogryposis syndrome 2A (DA2A) or Freeman-Sheldon syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#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/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25740846
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#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/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/dc/terms/created
2017-10-17T13:14:54+02:00
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP739601.RAclkHAeR5oJ3wACp3MhTI3i3ai83bZkx_ngGudAAP5p4
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