Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance.
- NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_assertion description "[Initial ileal biopsy suggested neuropathy; however, exome sequencing revealed an Arg148Ser mutation in the enteric smooth muscle actin gamma 2 (ACTG2) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance.
- NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_assertion evidence source_evidence_literature NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance.
- NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_assertion SIO_000772 24777424 NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance.
- NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_assertion wasDerivedFrom befree-20150227 NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance.
- NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_assertion wasGeneratedBy ECO_0000203 NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_provenance.