Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.F53L
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TTR

NM_000371.4:p.F53L

Associated Papers

Multicenter study of patients with transthyretin cardiac amyloidosis in Poland: Clinical characteristics, genotyping, electrocardiographic features, outcome predictors, and tafamidis treatment outcomes.

Gawor-Prokopczyk M et al.

Kardiologia Polska, 2026

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

Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis.

Holcman K et al.

European Journal of Nuclear Medicine and Molecular Imaging, 2025

Transthyretin-related amyloid cardiomyopathy: A single-center experience in southern Poland, an endemic area.

Holcman K et al.

Kardiologia Polska, 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

Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy.

Garcia-Pavia P et al.

Esc Heart Failure, 2024

Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys, and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis.

Gawor-Prokopczyk M et al.

Polish Archives of Internal Medicine, 2024

Diflunisal versus tafamidis on neuropathy and cardiomyopathy in hereditary transthyretin amyloidosis.

Chao CC et al.

Annals of Clinical and Translational Neurology, 2024

Transthyretin amyloid cardiomyopathy in patients with unexplained increased left ventricular wall thickness.

Holcman K et al.

The International Journal of Cardiovascular Imaging, 2024

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.

González-Moreno J et al.

Cardiology and Therapy, 2024

Multimodality family screening of patients with cardiac transthyretin amyloidosis: a case of an asymptomatic patient.

Mróz K et al.

European Heart Journal. Case Reports, 2023

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

Patel JK et al.

Neurology and Therapy, 2022

Cardiomyopathy correlates to nerve damage in p.A117S late-onset transthyretin amyloid polyneuropathy.

Lin YH et al.

Annals of Clinical and Translational Neurology, 2022

Amyloidogenicity assessment of transthyretin gene variants.

Grether NB et al.

Annals of Clinical and Translational Neurology, 2022

Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis.

Gawor M et al.

Cardiology Journal, 2022

Early Detection of Cardiac Amyloidosis in Transthyretin Mutation Carriers.

Nagano N et al.

International Heart Journal, 2022

Management of transthyretin amyloidosis.

Condoluci A et al.

Swiss Medical Weekly, 2021

Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records.

Carry BJ et al.

Jacc. Cardiooncology, 2021

Early changes of nerve integrity in preclinical carriers of hereditary transthyretin Ala117Ser amyloidosis with polyneuropathy.

Chiang MC et al.

European Journal of Neurology, 2021

TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients.

Moshe-Lilie O et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020

Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation.

Björkenheim A et al.

Bmj Case Reports, 2020

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.

Lipowska M et al.

Neurologia I Neurochirurgia Polska, 2020

A molecular mechanism for transthyretin amyloidogenesis.

Yee AW et al.

Nature Communications, 2019

30804345 (PubMed )
Supplement: 41467_2019_8609_MOESM1_ESM.pdf

Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.

Rowczenio D et al.

Human Mutation, 2019

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."