Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.A65V
Back to variants list

TTR

NM_000371.4:p.A65V

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

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.

Bhatt K et al.

Journal of the American Heart Association, 2024

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

A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report.

Thimm A et al.

Bmc Neurology, 2022

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

Patel JK et al.

Neurology and Therapy, 2022

Amyloidogenicity assessment of transthyretin gene variants.

Grether NB et al.

Annals of Clinical and Translational Neurology, 2022

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

Dale Z et al.

International Journal of Cardiology, 2022

Carpal tunnel syndrome and associated symptoms as first manifestation of hATTR amyloidosis.

Karam C et al.

Neurology. Clinical Practice, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."