Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.G121R
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TTR

NM_000371.4:p.G121R

Associated Papers

Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population.

Aung N et al.

Jama Cardiology, 2024

Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.

Gangfuß A et al.

Human Mutation, 2022

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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."