Familial hypercholesterolemia (FH) is the most common inherited life-threatening disorder of lipid metabolism. Early diagnosis and treatment are the key to reduce the cumulative life-long cardiovascular burden of patients with FH. The high number of variants described as variants of unknown significance is the largest obstacle to achieve a definitive FH diagnosis. This study established a time- and cost-effective high-throughput cell-based assay to functionally profile variants, which allowed us to discriminate disruptive rare variants from silent ones. This work generated a valuable resource for systematic functional characterization of variants solving 1 of the major issues to achieve a definitive FH diagnosis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10504398 | PMC |
| http://dx.doi.org/10.1016/j.jacbts.2023.03.013 | DOI Listing |
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