Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.G592D
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ABCA1

NM_005502.4:p.G592D

Associated Papers

Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

Pan-Lizcano R et al.

International Journal of Molecular Sciences, 2022

Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.

Bossaerts L et al.

Acta Neuropathologica Communications, 2022

35361255 (PubMed )
Supplement: 40478_2022_1346_MOESM1_ESM.docx

Tangier disease: update for 2020.

Hooper AJ et al.

Current Opinion in Lipidology, 2020

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.

El Khoury P et al.

Journal of Clinical Lipidology, 0

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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."