dgn-np:NP527193.RAzrKutNkXSNhXngcz5BO0bApne8rdbpeU1f7kYj5ZmGY130_provenance {
  dgn-np:NP527193.RAzrKutNkXSNhXngcz5BO0bApne8rdbpeU1f7kYj5ZmGY130_assertion dcterms:description "[Pathophysiological mechanisms explaining how mutations in an unique gene could lead to such various phenotypes are still unknown, but probably involve alterations in cellular mechanical stress responses, in gene expression, and/or in post-translational maturation of lamin A. Familial Partial Lipodystrophy of the Dunnigan type (FPLD2), with specific features of pseudo-cushingoid lipodystrophy, marked insulin resistance and muscular hypertrophy, and a relatively homogeneous genotype, was thought, until recently, to be the only laminopathy causing diabetes.]. 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:16357800 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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 .
}