Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance.
- NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_assertion description "[Only SMN1 homoduplex peak was detected in 2 normal individuals and the standard sample, indicating the deletion of SMN2 On the contrary, only the SMN2 homoduplex peak was detected in 22 out of 25 patients with SMA, indicating deletion of SMN1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance.
- NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_assertion evidence source_evidence_literature NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance.
- NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_assertion SIO_000772 15952118 NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance.
- NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_assertion wasDerivedFrom befree-2016 NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance.
- NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_assertion wasGeneratedBy ECO_0000203 NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance.
- befree-2016 importedOn "2016-02-19" NP499183.RASmVIwu-s0aFDGVOY0Uudv78ziaaenjR8YXr8c-kWt6Q130_provenance.