Genomic analyses of all known putative familial hypercholesterolemia mutations showcase the value and limitations of public familial hypercholesterolemia mutation databases
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DOI: 10.1093/ehjci/ehaa946.2994
Abstract: Familial hypercholesterolemia (FH) is genetically very heterogeneous and genomic and locus-specific public databases describing putative FH mutations are assumed to be of limited clinical utility because of classification errors. A description of all currently known… read more here.
Keywords: pathogenic variants; likely pathogenic; classified pathogenic; pathogenic likely ... See more keywords