Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.E58K
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APOA1

NM_000039.3:p.E58K

Associated Papers

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

Renal ApoA-1 amyloidosis with Glu34Lys mutation and intra-amyloid lipid accumulation.

Andeen NK et al.

Journal of the American Society of Nephrology : Jasn, 2014

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I.

Rowczenio D et al.

The American Journal of Pathology, 2011

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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."