Matches in Nanopublications for { <http://krauthammerlab.med.yale.edu/nanopub/GeneRIF137737.RAxWEWMzP80_Gqve8Hf0W3qANwqyW-pG4Vc23polxj4Rs#assertion> ?p ?o ?g. }
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- assertion type UnderspecifiedAssertion assertion.
- assertion hadPrimarySource 21966534 provenance.
- assertion wasDerivedFrom generifs_basic.gz provenance.
- assertion about 1586 assertion.
- assertion about 9606 assertion.
- assertion asSentence The+IVS1+%2B2T%3EC+mutation+abolished+most+17alpha-hydroxylase%2F17%2C+20-lyase+enzyme+activity+by+aberrant+mRNA+splicing+to+an+intronic+pseudo-exon%2C+causing+a+frame+shift+and+early+termination. assertion.