Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.T60I
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TTR

NM_000371.4:p.T60I

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

Early Detection of Transthyretin Cardiac Amyloidosis Using 124I-Evuzamitide Positron Emission Tomography/Computed Tomography.

Smiley DA et al.

Jacc. Cardiovascular Imaging, 2025

Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant.

Messina C et al.

Journal of Personalized Medicine, 2025

Transthyretin Cardiac Amyloidosis in Australia and New Zealand-A Multi-Site Snapshot for 2022.

Geenty P et al.

Heart, Lung & Circulation, 2025

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

Axonal excitability as an early biomarker of nerve involvement in hereditary transthyretin amyloidosis.

Carroll AS et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2024

An additive destabilising effect of compound T60I and V122I substitutions in ATTRv amyloidosis.

Prokaeva T et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023

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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."