Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1096612.RA9sCWN3Fenx0facziHlNuflbicmWFdFRze2Yyw7H2JmA#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15732117 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.