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{ ?s ?p ?o <http://krauthammerlab.med.yale.edu/nanopub/GeneRIF259521.RAbaOznYovBGQK8X3Giw1-nz37JhAWZux4g73cSVhlQSI#assertion>. }
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UnderspecifiedAssertion
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The+LDLR+mutation+p.W556R+is+a+frequent+and+severe+defect+for+familial+hypercholesterolemia%2C+influencing+LDL+lipoprotein+synthesis%2Fcatabolism.
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