Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.A154fs
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APOA1

NM_000039.3:p.A154fs

Associated Papers

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

Apolipoprotein A-1-related amyloidosis 2 case reports and review of the literature.

Lu C et al.

Medicine, 2017

Apolipoprotein A-I: the dual face of a protein.

Arciello A et al.

Febs Letters, 2016

A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype.

Tougaard BG et al.

European Journal of Medical Genetics, 2016

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

Rowczenio D et al.

The American Journal of Pathology, 2011

Marked HDL deficiency and premature coronary heart disease.

Schaefer EJ et al.

Current Opinion in Lipidology, 2010

Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene.

Eriksson M et al.

The Journal of Molecular Diagnostics : Jmd, 2009

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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."