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- source_evidence_literature type ECO_0000212 NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_provenance.
- NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_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." NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_provenance.
- NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_assertion evidence source_evidence_literature NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_provenance.
- NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_assertion SIO_000772 17763460 NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_provenance.
- NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_assertion wasDerivedFrom befree-20140225 NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_provenance.
- NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_assertion wasGeneratedBy ECO_0000203 NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP568329.RAQsUOR1IdEH3fHxNqIiW-51dqEwNWg0DGg3iu62DLYTw130_provenance.