Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.T69I
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TTR

NM_000371.4:p.T69I

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

Cardiopulmonary Exercise Testing Correlates with Quantitative Left Ventricular [99mTc]-DPD Uptake in Transthyretin Amyloid Cardiomyopathy.

Ermolaev N et al.

Journal of Clinical Medicine, 2025

His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.

Binder C et al.

Journal of Clinical Medicine, 2024

39768780 (PubMed )
Supplement: jcm-13-07857-s001.zip › jcm-3382088-supplementary.pdf

Effectiveness of patisiran after switching from tafamidis for the treatment of hereditary transthyretin-mediated amyloidosis with polyneuropathy.

Labeyrie C et al.

European Journal of Neurology, 2024

Reduction in 99mTc-DPD myocardial uptake with therapy of ATTR cardiomyopathy.

Rettl R et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2024

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

Amyloid Burden Correlates with Electrocardiographic Findings in Patients with Cardiac Amyloidosis-Insights from Histology and Cardiac Magnetic Resonance Imaging.

Duca F et al.

Journal of Clinical Medicine, 2024

Does [99mTc]-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) soft tissue uptake allow the identification of patients with the diagnosis of cardiac transthyretin-related (ATTR) amyloidosis with higher risk for polyneuropathy?

Wollenweber T et al.

Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology, 2023

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.

Skrahina V et al.

Annals of Medicine, 2021

Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.

Janin A et al.

Molecular Diagnosis & Therapy, 2021

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.

Auer-Grumbach M et al.

Journal of Clinical Medicine, 2020

Strategies to improve the quality of life in patients with hereditary transthyretin amyloidosis (hATTR) and autonomic neuropathy.

Gendre T et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2019

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.

Damy T et al.

European Heart Journal, 2016

Noninvasive detection of cardiac involvement in patients with hereditary transthyretin associated amyloidosis using cardiac magnetic resonance imaging: a prospective study.

Deux JF et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2014

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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."