Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.G67V
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TTR

NM_000371.4:p.G67V

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

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 Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals of Neurology, 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

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

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

Characterization of Transthyretin Mutation G47V Associated with Hereditary Cardiac Amyloidosis.

He X et al.

Cardiology, 2024

Mode of death and outcomes of implantable cardioverter defibrillators in transthyretin amyloid cardiomyopathy.

Dale Z et al.

International Journal of Cardiology, 2022

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

Rowczenio D et al.

Human Mutation, 2019

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.

Carr AS et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

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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."