Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E62G
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TTR

NM_000371.4:p.E62G

Associated Papers

Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.

Lomoio U et al.

Npj Systems Biology and Applications, 2025

40998828 (PubMed )
Supplement: 41540_2025_582_MOESM1_ESM.pdf

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals of Neurology, 2025

Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.

Senem I et al.

Journal of Neurology, 2025

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.

González-Moreno J et al.

Cardiology and Therapy, 2024

Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.

Wang S et al.

Frontiers in Cardiovascular Medicine, 2022

Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation.

Chu X et al.

Frontiers in Molecular Neuroscience, 2022

Electrophysiological demyelinating features in hereditary ATTR amyloidosis.

Ohashi N et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019

Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation.

Matsushima M et al.

Internal Medicine (tokyo, Japan), 2017

A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred.

Jimenez-Zepeda VH et al.

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

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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."