Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_assertion type Assertion NP221983.RAVpXexWjrSB9LvUowQ9lGo3dXpYqo1cSH90rni3auJoQ130_head.
- 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.