Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance.
- NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_assertion description "[We report clinical, electrophysiology, muscle magnetic resonance imaging and histopathology findings in a four generation family with typical dominant congenital spinal muscular atrophy features, without mutations in TRPV4, and in whom linkage to other known dominant neuropathy and spinal muscular atrophy genes has been excluded.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance.
- NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_assertion evidence source_evidence_literature NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance.
- NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_assertion SIO_000772 22628388 NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance.
- NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_assertion wasDerivedFrom befree-20140225 NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance.
- NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_assertion wasGeneratedBy ECO_0000203 NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP615493.RA55Qj8ZjyGRmT_3V_CU79FZ2OvMi4vm8ISk8I8KYJUEg130_provenance.