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- source_evidence_literature type ECO_0000212 NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_provenance.
- NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_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." NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_provenance.
- NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_assertion evidence source_evidence_literature NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_provenance.
- NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_assertion SIO_000772 17763460 NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_provenance.
- NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_assertion wasDerivedFrom befree-20140225 NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_provenance.
- NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_assertion wasGeneratedBy ECO_0000203 NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP448136.RAIzlhanoy_zUUKhk-i23I3Rd4d-GNWWuZZnwyg1L_UaU130_provenance.