Comprehensive Analysis of Variant Effects, Mutation Spectrum, and Functional Enrichment in Familial Hypercholesterolemia- Associated Mutations

This study conducts a large-scale genomic and bioinformatic analysis of familial hypercholesterolemia-associated mutations, revealing variant con-sequences, functional enrichment patterns, and mutation spectrum trends that inform precision gene therapy development.

Posted by buchanle on Friday, May 15th, 2026 in May 2026, familial hypercholesterolemia, gene ontology, genetic variants, LDLR, mutation spectrum

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