Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.I46V
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TTR

NM_000371.4:p.I46V

Associated Papers

A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy.

Pyankov IA et al.

Journal of Structural Biology, 2025

Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.

Lahuerta Pueyo C et al.

European Journal of Human Genetics : Ejhg, 2019

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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."