Varaico: Literature-Extracted Genetic Variants

Gene:APOA1
Variant:p.Q196P
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APOA1

NM_000039.3:p.Q196P

Associated Papers

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

Zanoni P et al.

Current Opinion in Lipidology, 2020

Amyloid cardiomyopathy associated with a novel apolipoprotein A-I Q172P variant.

Vonberg FW et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2015

Online registry for mutations in hereditary amyloidosis including nomenclature recommendations.

Rowczenio DM et al.

Human Mutation, 2014

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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."