Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_assertion> ?p ?o ?g. }
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- NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_assertion type Assertion NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_head.
- NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_assertion description "[A 55-year-old German patient with inclusion body myopathy and frontotemporal dementia who harbors a heterozygous R155C missense mutation residing in the N-terminal CDC48 domain of VCP, which is involved in ubiquitin binding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_provenance.
- NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_assertion evidence source_evidence_literature NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_provenance.
- NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_assertion SIO_000772 15732117 NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_provenance.
- NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_assertion wasDerivedFrom lhgdn-20090331 NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_provenance.
- NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_assertion wasGeneratedBy ECO_0000203 NP209444.RABSouQ3f9fWk-0gsIoJjX9xTjlr6N6zBf7bDWPcXmLHQ130_provenance.