Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_assertion> ?p ?o ?g. }
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- NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_assertion type Assertion NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_head.
- NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_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." NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_provenance.
- NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_assertion evidence source_evidence_literature NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_provenance.
- NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_assertion SIO_000772 15732117 NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_provenance.
- NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_assertion wasDerivedFrom lhgdn-20090331 NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_provenance.
- NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_assertion wasGeneratedBy ECO_0000203 NP211994.RAM21RaARN7-i_QsTf6RK0YWUsubSp5elZDxyGPfEpLR4130_provenance.