Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V114A
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TTR

NM_000371.4:p.V114A

Associated Papers

Assessing Serum Neurofilament Light Chain in Hereditary Transthyretin Amyloidosis: Direct Comparison of Three Immunoassays.

Berends M et al.

Journal of Clinical Medicine, 2026

41753271 (PubMed )
Supplement: jcm-15-01584-s001.zip › jcm-4123428-supplementary.pdf

Cardiac remodeling and arterial stiffness progression in wild-type vs hereditary transthyretin amyloidosis in Crete.

Korela D et al.

International Journal of Cardiology, 2026

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

Detecting early cardiomyopathy in transthyretin variant carriers: reappraising the diagnostic value of Perugini grade 1 radiotracer uptake on bone scintigraphy.

Tingen HSA et al.

European Journal of Nuclear Medicine and Molecular Imaging, 2025

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

Mutant p.Val114Ala Transthyretin-Related Cardiac Amyloidosis with Heart Failure and Right Bundle Branch Block.

Murat S et al.

Anatolian Journal of Cardiology, 2025

His108Arg Transthyretin Amyloidosis-Shedding Light on a Distinctively Malignant Variant.

Binder C et al.

Journal of Clinical Medicine, 2024

39768780 (PubMed )
Supplement: jcm-13-07857-s001.zip › jcm-3382088-supplementary.pdf

Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.

Rösner S et al.

Journal of Clinical Medicine, 2024

Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.

Chiaro G et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2024

Cardiac [99mTc]Tc-hydroxydiphosphonate uptake on bone scintigraphy in patients with hereditary transthyretin amyloidosis: an early follow-up marker?

Tingen HSA et al.

European Journal of Nuclear Medicine and Molecular Imaging, 2024

Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review.

Aldinc E et al.

Bmc Musculoskeletal Disorders, 2023

Corneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis.

Thimm A et al.

Journal of Neurology, 2023

Does [99mTc]-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) soft tissue uptake allow the identification of patients with the diagnosis of cardiac transthyretin-related (ATTR) amyloidosis with higher risk for polyneuropathy?

Wollenweber T et al.

Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology, 2023

High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.

Tzagournissakis M et al.

Neurology. Genetics, 2022

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

Skrahina V et al.

Annals of Medicine, 2021

Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis.

Louwsma J et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2021

Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.

Auer-Grumbach M et al.

Journal of Clinical Medicine, 2020

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."