Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion> ?p ?o ?g. }
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- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion type Assertion NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_head.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion wasGeneratedBy ECO_0000203 NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion wasDerivedFrom befree-2016 NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion SIO_000772 16032383 NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion evidence source_evidence_literature NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion description "[The common familial dysautonomia (FD) mutation causes a splicing defect that leads to production of both wild-type (WT) and mutant (MU) IKBKAP mRNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.