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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOB

Variant:p.L3532_Q3533insFs

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APOB

NM_000384.3:p.L3532_Q3533insFs

hg38:chr2:21006269 C>CTGCAA

Associated Papers

Two Cases of Heterozygous Familial Hypercholesterolemia in Children Effectively Managed With Pitavastatin and Ezetimibe Combination Therapy.

Nishioka K et al.

Clinical Case Reports, 2025

41036155 (PubMed )

Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan.

Matsunaga K et al.

Journal of Atherosclerosis and Thrombosis, 2022

34176852 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."