Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.T47A
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STAP1

NM_012108.4:p.T47A

Associated Papers

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Taking One Step Back in Familial Hypercholesterolemia: STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans.

Loaiza N et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

Genes Potentially Associated with Familial Hypercholesterolemia.

Mikhailova S et al.

Biomolecules, 2019

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

Brænne I et al.

European Journal of Human Genetics : Ejhg, 2016

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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."