Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A166A
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LDLR

NM_000527.5:p.A166A

Associated Papers

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Gandhi GD et al.

Journal of Translational Medicine, 2022

36329474 (PubMed )
Supplement: 12967_2022_3697_MOESM1_ESM.docx

Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.

Awan ZA et al.

Current Opinion in Lipidology, 2019

In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.

Morad FA et al.

Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2018

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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."