Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.G221S
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APOB

NM_000384.3:p.G221S

Associated Papers

A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.

Rodríguez Gutiérrez PG et al.

Journal of Clinical Laboratory Analysis, 2021

Lipoprotein apheresis and PCSK9 inhibitors for severe familial hypercholesterolaemia: Experience from Australia and New Zealand.

Page MM et al.

Journal of Clinical Apheresis, 2021

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia.

Di Leo E et al.

Atherosclerosis, 2005

Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism.

Hooper AJ et al.

Critical Reviews in Clinical Laboratory Sciences, 2005

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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."