Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_assertion> ?p ?o ?g. }
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- NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_assertion type Assertion NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_head.
- NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_assertion description "[We identified the p.R155C missense mutation in the VCP gene segregating in an Italian family with three affected siblings, two of whom had a progressive myopathy associated with dementia, whereas one exhibited a progressive myopathy and preclinical signs of Paget's disease of bone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_provenance.
- NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_assertion evidence source_evidence_literature NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_provenance.
- NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_assertion SIO_000772 17763460 NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_provenance.
- NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_assertion wasDerivedFrom befree-2016 NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_provenance.
- NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_assertion wasGeneratedBy ECO_0000203 NP627690.RARZGSvZlppG8V25qtgSbHc08KnpnRKcLz8qf1rq8nmko130_provenance.