Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.R227*
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ABCA1

NM_005502.4:p.R227*

Associated Papers

Lipid Dysregulation in Tangier Disease: A Case Series and Metabolic Characterization.

Semmler G et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation.

Subramaniam K et al.

Journal of Postgraduate Medicine, 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."