Matches in Nanopublications for { <http://krauthammerlab.med.yale.edu/nanopub/GeneRIF346714.RA646-1uHcLrYj1TBLrg8FbGCfR4cEZClVCong45rKjIw#assertion> ?p ?o ?g. }
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- assertion type UnderspecifiedAssertion assertion.
- assertion asSentence Members+of+an+extended+family+with+an+RYR1+gene+mutation+present+with+central+core+myopathy+manifesting+as+upper+eyelid+ptosis%2C+quadriceps+atrophy+and+patellar+dislocation. assertion.
- assertion wasDerivedFrom generifs_basic.gz provenance.
- assertion hadPrimarySource 22030266 provenance.
- assertion about 9606 assertion.
- assertion about 6261 assertion.