Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.R579*
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ABCA1

NM_005502.4:p.R579*

Associated Papers

Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.

de Rojas I et al.

Alzheimer's Research & Therapy, 2025

41088469 (PubMed )
Supplement: 13195_2025_1854_MOESM2_ESM.xlsx › SuppTable2

Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia.

Furuta Y et al.

Journal of Atherosclerosis and Thrombosis, 2024

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Akbari P et al.

Nature Communications, 2022

35999217 (PubMed )
Supplement: 41467_2022_32398_MOESM4_ESM.xlsx › Supp._Data_4
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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."