Matches in Nanopublications for { <http://krauthammerlab.med.yale.edu/nanopub/GeneRIF259521.RAbaOznYovBGQK8X3Giw1-nz37JhAWZux4g73cSVhlQSI#assertion> ?p ?o ?g. }
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- assertion type UnderspecifiedAssertion assertion.
- assertion asSentence The+LDLR+mutation+p.W556R+is+a+frequent+and+severe+defect+for+familial+hypercholesterolemia%2C+influencing+LDL+lipoprotein+synthesis%2Fcatabolism. assertion.
- assertion wasDerivedFrom generifs_basic.gz provenance.
- assertion hadPrimarySource 20129366 provenance.
- assertion about 9606 assertion.
- assertion about 3949 assertion.