Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_assertion> ?p ?o ?g. }
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- NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_assertion type Assertion NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_head.
- NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_assertion description "[Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_provenance.
- NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_assertion evidence source_evidence_literature NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_provenance.
- NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_assertion SIO_000772 21926372 NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_provenance.
- NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_assertion wasDerivedFrom befree-2016 NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_provenance.
- NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_assertion wasGeneratedBy ECO_0000203 NP924491.RAccmclgGiaz8CjjOJzSG3l8eumVB9eV7bWQSpZesDM1A130_provenance.