@prefix semsc: . @prefix dct: . @prefix orcid: . @prefix this: . @prefix rdfs: . @prefix xsd: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_head { this: np:hasAssertion dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_assertion; np:hasProvenance dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_provenance; np:hasPublicationInfo dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_publicationInfo; a np:Nanopublication . dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_assertion a np:Assertion . dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_provenance a np:Provenance . dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_publicationInfo a np:PublicationInfo . } dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_assertion { miriam-gene:1756 a ncit:C16612 . lld:C0027126 a ncit:C7057 . dgn-gda:DGNd1174e4c29a8a6b28112048eb09140c1 semsc:SIO_000628 miriam-gene:1756, lld:C0027126; a semsc:SIO_001121 . } dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_provenance { dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_assertion dct:description "[The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterogeneous autosomal-recessive limb-girdle muscular dystrophy, the severe childhood autosomal-recessive muscular dystrophy, the merosin-positive and -negative congenital muscular dystrophies, the autosomal-recessive distal muscular dystrophy of Miyoshi, the facio-scapulo-humeral muscular dystrophy, and myotonic dystrophy, both the adult and neonatal variants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; semsc:SIO_000772 miriam-pubmed:8795845; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP213133.RADM9TTtxjRwNCbtwcwP-X9wutpGfvM__b0_3IPfQrtFI130_publicationInfo { this: dct:created "2014-10-02T12:33:58+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct:subject semsc:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }