Matches in Nanopublications for { <http://krauthammerlab.med.yale.edu/nanopub/GeneRIF131972.RAvPH2XamQ6kbjQ-g2pBQYegOkQNQDHd6AL7vm497-uYE#assertion> ?p ?o ?g. }
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- assertion type UnderspecifiedAssertion assertion.
- assertion hadPrimarySource 18470941 provenance.
- assertion wasDerivedFrom generifs_basic.gz provenance.
- assertion about 1545 assertion.
- assertion about 9606 assertion.
- assertion asSentence CYP1B1+mutations+causing+primary+congenital+glaucoma+can+act+by+either+reducing+enzymatic+activity+%28p.G61E+and+p.N203S%29%2C+reducing+the+abundance+of+the+enzyme+%28p.Y81N+and+p.E229+K%29%2C+or+both+%28p.L343del%29. assertion.