Associated Papers
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
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36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_2_-_variants__HoFH_
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
Usifo E et al.
Annals of Human Genetics, 2012
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