Article

Genetic architecture of familial hypercholesterolemia: a cohort of St. Petersburg residents

2025-11-21

Abstract excerpt

Aim. To determine the frequency of pathogenic and likely pathogenic variants associated with familial hypercholesterolemia (FH) with assessment of the proportion of polygenic FH according to the 6-SNP genetic risk score (GRS) among patients diagnosed with possible/probable/definite FH in St. Petersburg. Material and methods. This study tested a hybrid targeted panel for gene diagnostics of hereditary dyslipidemias...

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Literature Corpus work: 9223f4c0-621e-559b-a98f-6a7927504163
DOI: 10.15829/1560-4071-2025-6432

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