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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APOB

Variant:p.E621*

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APOB

NM_000384.3:p.E621*

hg38:chr2:21028034 C>A

Associated Papers

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.

Rimbert A et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2021

33207932 (PubMed )

Supplement: atvb_atvb-2020-315491d_supp2.pdf

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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."