@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_head { this: np:hasAssertion dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_assertion; np:hasProvenance dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_provenance; np:hasPublicationInfo dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_publicationInfo; a np:Nanopublication . dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_assertion a np:Assertion . dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_provenance a np:Provenance . dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_publicationInfo a np:PublicationInfo . } dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_assertion { miriam-gene:4359 a ncit:C16612 . lld:C0027888 a ncit:C7057 . dgn-gda:DGN1f19698e6cd79bb42502bd0a9cba5a73 sio:SIO_000628 miriam-gene:4359, lld:C0027888; a sio:SIO_001122 . } dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_provenance { dgn-np:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_assertion dcterms:description "[The MPZ gene Ser44Phe mutation found in the HMSN II family presented in this study suggests that genetic analysis of HMSN II families should also include the MPZ gene, previously not considered to be involved in the axonal form of HMSN.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:9595994; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP568198.RAbaWXXMTxSxYzeBKsYQFD7PFtt0x8dRU7iUbTUlm9aLU130_publicationInfo { this: dcterms:created "2015-08-25T14:43:18+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }