Associated Papers
LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.
Konečná K et al.
Lipids in Health and Disease, 2024
Evaluation of Liftover Tools for the Conversion of Genome Reference Consortium Human Build 37 to Build 38 Using ClinVar Variants.
Park KJ et al.
Genes, 2023
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
Goldmann R et al.
Bmc Medical Genetics, 2010
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