Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.R123H
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TTR

NM_000371.4:p.R123H

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

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

Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.

Borgio JF

Archives of Medical Science : Ams, 2023

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.

Abouelhoda M et al.

Human Genomics, 2021

Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.

Lopes LR et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019

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

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.

Damy T et al.

European Heart Journal, 2016

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