Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion type Assertion NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_head.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion description "[We identified a novel Cys521Tyr progranulin gene variant in a PNFA family that potentially disrupts disulphide bridging causing protein misfolding.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion evidence source_evidence_literature NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion SIO_000772 19020205 NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion wasDerivedFrom befree-2016 NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.
- NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_assertion wasGeneratedBy ECO_0000203 NP704662.RA8hWkwrJf5KU_ulwSH25xV3BqQ3SmKAvspbHzzEaBYF4130_provenance.