Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E62D
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TTR

NM_000371.4:p.E62D

Associated Papers

Efficacy of Acoramidis in Wild-Type and Variant Transthyretin Amyloid Cardiomyopathy: Results From ATTRibute-CM and Its Open-Label Extension.

Alexander KM et al.

Jama Cardiology, 2026

41205147 (PubMed )
Supplement: jamacardiol-e254477-s001.pdf

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

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

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

Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin.

Conti E et al.

Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2024

Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.

Iorio A et al.

Bmc Genomics, 2017

28335735 (PubMed )
Supplement: 12864_2017_3646_MOESM1_ESM.pdf
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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."