Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.R3699*
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APOB

NM_000384.3:p.R3699*

Associated Papers

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.

Wakabayashi T et al.

Journal of Atherosclerosis and Thrombosis, 2024

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.

Alves AC et al.

Frontiers in Genetics, 2022

Familial hypobetalipoproteinemia: analysis of three Spanish cases with two new mutations in the APOB gene.

Martín-Morales R et al.

Gene, 2013

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.

Di Costanzo A et al.

Journal of Clinical Lipidology, 0

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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."