Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V17M
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TTR

NM_000371.4:p.V17M

Associated Papers

In Vitro and In Vivo Effects of SerpinA1 on the Modulation of Transthyretin Proteolysis.

Bezerra F et al.

International Journal of Molecular Sciences, 2021

Presence of N-glycosylated transthyretin in plasma of V30M carriers in familial amyloidotic polyneuropathy: an escape from ERAD.

Teixeira AC et al.

Journal of Cellular and Molecular Medicine, 2013

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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."