Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_assertion> ?p ?o ?g. }
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- NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_assertion type Assertion NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_head.
- NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_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." NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_provenance.
- NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_assertion evidence source_evidence_literature NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_provenance.
- NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_assertion SIO_000772 24777424 NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_provenance.
- NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_assertion wasDerivedFrom befree-2016 NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_provenance.
- NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_assertion wasGeneratedBy ECO_0000203 NP1177523.RAoVXxaMlFnEJX0TGAqyh-DIsUwItFPIqkCKwP0Cz_GS0130_provenance.