ArticleScientific reports2015
Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.
J A Fernández-Higuero et al.PubMed ↗Full text ↗Publisher ↗
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