Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E81A
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TTR

NM_000371.4:p.E81A

Associated Papers

A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy.

Pyankov IA et al.

Journal of Structural Biology, 2025

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

Messina C et al.

Journal of Personalized Medicine, 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

Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.

Patel JK et al.

Neurology and Therapy, 2022

Structural alterations within native amyloidogenic immunoglobulin light chains.

Randles EG et al.

Journal of Molecular Biology, 2009

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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."