Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.L55P
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C2

NM_000063.6:p.L55P

Associated Papers

Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.

Yang D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

The Transthyretin/Oleuropein Aglycone Complex: A New Tool against TTR Amyloidosis.

Bemporad F et al.

Pharmaceuticals (basel, Switzerland), 2022

A library of ATTR amyloidosis patient-specific induced pluripotent stem cells for disease modelling and in vitro testing of novel therapeutics.

Giadone RM et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2018

Natural polyphenols inhibit different steps of the process of transthyretin (TTR) amyloid fibril formation.

Ferreira N et al.

Febs Letters, 2011

Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses.

Cendron L et al.

The Journal of Biological Chemistry, 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."