Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V731_A735insFs
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LDLR

NM_000527.5:p.V731_A735insFs

Associated Papers

Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.

Reijman MD et al.

Current Opinion in Lipidology, 2023

36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_1_-_variants__HeFH_
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