Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance.
- NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_assertion description "[Charcot-Marie-Tooth disease type 4J (CMT4J), a rare form of demyelinating CMT, caused by recessive mutations in the phosphoinositide phosphatase FIG4 gene, is characterised by progressive proximal and distal weakness and evidence of chronic denervation in both proximal and distal muscles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance.
- NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_assertion evidence source_evidence_literature NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance.
- NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_assertion SIO_000772 23489662 NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance.
- NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_assertion wasDerivedFrom befree-20140225 NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance.
- NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_assertion wasGeneratedBy ECO_0000203 NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance.