Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_assertion type Assertion NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_head.
- NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_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." NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_provenance.
- NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_assertion evidence source_evidence_literature NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_provenance.
- NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_assertion SIO_000772 17763460 NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_provenance.
- NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_assertion wasDerivedFrom befree-2016 NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_provenance.
- NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_assertion wasGeneratedBy ECO_0000203 NP627693.RAwpbCtP4MMZxflo_qdNYiuw5UpcJGSqwbm9cy_JBL1Zw130_provenance.