Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.L84P
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APOA1

NM_000039.3:p.L84P

Associated Papers

Natural variants of apolipoprotein A1 L99P and R173P exhibited a high degree of amyloid fibril formation: Implications for high-density lipoprotein functions and disease pathogenesis.

Bhale AS et al.

International Journal of Biological Macromolecules, 2026

Delineating the impact of pathogenic mutations on the conformational dynamics of HDL's vital protein ApoA1: a combined computational and molecular dynamic simulation approach.

Bhale AS et al.

Journal of Biomolecular Structure & Dynamics, 2023

Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development.

Zanoni P et al.

Current Opinion in Lipidology, 2020

A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options.

Moutafi M et al.

Bmc Medical Genetics, 2019

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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."