Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.G592C
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ABCA1

NM_005502.4:p.G592C

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

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

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Geller AS et al.

Journal of Lipid Research, 2018

Genetic and epigenetic stability of oligodendrogliomas at recurrence.

Aihara K et al.

Acta Neuropathologica Communications, 2017

28270234 (PubMed )
Supplement: 40478_2017_422_MOESM1_ESM.xlsx › 3_Mutations
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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."