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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA1

Variant:p.D585E

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ABCA1

NM_005502.4:p.D585E

hg38:chr9:104831062 G>C

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

38052254 (PubMed )

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Sadananda SN et al.

Journal of Lipid Research, 2015

26255038 (PubMed )

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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."