Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.L3576insFs
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APOB

NM_000384.3:p.L3576insFs

Associated Papers

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.

Wakabayashi T et al.

Journal of Atherosclerosis and Thrombosis, 2024

Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.

Leren TP et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

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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."