Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.L202R
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APOA1

NM_000039.3:p.L202R

Associated Papers

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.

Yagi S et al.

Human Genome Variation, 2024

Giant Hepatomegaly with Spleno-testicular Enlargement in a Patient with Apolipoprotein A-I Amyloidosis: An Uncommon Type of Amyloidosis in Japan.

Yoshinaga T et al.

Internal Medicine (tokyo, Japan), 2021

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

Zanoni P et al.

Current Opinion in Lipidology, 2020

Two novel APOA1 gene mutations in a Japanese renal transplant recipient with recurrent apolipoprotein A-I related amyloidosis.

Horike K et al.

Nephrology (carlton, Vic.), 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."