Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_assertion> ?p ?o ?g. }
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- NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_assertion type Assertion NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_head.
- NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_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." NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_provenance.
- NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_assertion evidence source_evidence_literature NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_provenance.
- NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_assertion SIO_000772 15732117 NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_provenance.
- NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_assertion wasDerivedFrom lhgdn-20090331 NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_provenance.
- NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_assertion wasGeneratedBy ECO_0000203 NP209443.RAOdujuiw-bnmG18WPxQt1yRlrJfHRhfcuPQ80m-hqZ48130_provenance.