Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.D575G
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ABCA1

NM_005502.4:p.D575G

Associated Papers

Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay.

Teigen M et al.

Journal of Lipid Research, 2024

ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.

Trigueros-Motos L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2017

Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol.

Candini C et al.

Atherosclerosis, 2010

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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."