Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.D119N
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TTR

NM_000371.4:p.D119N

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

Transthyretin Tetramer Destabilization and Increased Mortality in the General Population.

Christoffersen M et al.

Jama Cardiology, 2025

Prevalence estimation of ATTRv in China based on genetic databases.

Yongsheng Z et al.

Frontiers in Genetics, 2023

37124609 (PubMed )
Supplement: DataSheet1.PDF

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

Skrahina V et al.

Annals of Medicine, 2021

Association of Low Plasma Transthyretin Concentration With Risk of Heart Failure in the General Population.

Greve AM et al.

Jama Cardiology, 2021

Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.

Lahuerta Pueyo C et al.

European Journal of Human Genetics : Ejhg, 2019

Thermodynamic stability and denaturation kinetics of a benign natural transthyretin mutant identified in a Danish kindred.

Groenning M et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2011

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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."