Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E62K
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TTR

NM_000371.4:p.E62K

Associated Papers

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Singh A et al.

Journal of Clinical Medicine, 2025

41095902 (PubMed )
Supplement: jcm-14-06821-s001.zip › jcm-3769433-supplementary.pdf

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

CRISPR-Cas9 Gene Editing with Nexiguran Ziclumeran for ATTR Cardiomyopathy.

Fontana M et al.

The New England Journal of Medicine, 2024

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

Bhatt K et al.

Journal of the American Heart Association, 2024

39575713 (PubMed )
Supplement: JAH3-13-e033770-s001.pdf

Transthyretin mutagenesis: impact on amyloidogenesis and disease.

Almeida ZL et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

Cationic Surface Charge Engineering of Recombinant Transthyretin Remarkably Increases the Inhibitory Potency Against Amyloid β-Protein Fibrillogenesis.

Lin X et al.

Molecules (basel, Switzerland), 2024

Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral centre.

Caponetti AG et al.

European Journal of Preventive Cardiology, 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

Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.

Gasparotti R et al.

Journal of Neurology, 2023

Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis.

Salvalaggio A et al.

Journal of Neurology, 2022

Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Damy T et al.

European Heart Journal, 2022

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.

Luigetti M et al.

Brain Sciences, 2020

Screening for genetic mutations in patients with neuropathy without definite etiology is useful.

Vogt B et al.

Journal of Neurology, 2020

Distinctive Patterns of Transthyretin Amyloid in Salivary Tissue: A Clinicopathologic Study of 92 Patients With Amyloid-containing Minor Salivary Gland Biopsies.

Jamet MP et al.

The American Journal of Surgical Pathology, 2015

Inherited neuropathies: an update.

Sagnelli A et al.

Journal of Neurology, 2013

Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis.

Briani C et al.

Journal of Neurology, 2012

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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."