Varaico: Literature-Extracted Genetic Variants

Gene:LIMA1
Variant:p.L25I
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LIMA1

NM_016357.5:p.L25I

Associated Papers

From Genetic Findings to new Intestinal Molecular Targets in Lipid Metabolism.

Le May C et al.

Current Atherosclerosis Reports, 2025

LIMA1 links the E3 ubiquitin ligase RNF40 to lipid metabolism.

Liu Z et al.

Cell Death Discovery, 2024

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.

Luo FM et al.

Frontiers in Pediatrics, 2021

A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption.

Zhang YY et al.

Science (new York, N.y.), 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."