Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.A45V
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TTR

NM_000371.4:p.A45V

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

Genetic and clinical features of hereditary transthyretin amyloidosis: a decade of experience at a Japanese referral center.

Nomura T et al.

Orphanet Journal of Rare Diseases, 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

Transthyretin mutagenesis: impact on amyloidogenesis and disease.

Almeida ZL et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

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

Patel JK et al.

Neurology and Therapy, 2022

CTNNB1 mutations, TERT polymorphism and CD8+ cell densities in resected hepatocellular carcinoma are associated with longer time to recurrence.

Ambrozkiewicz F et al.

Bmc Cancer, 2022

35962322 (PubMed )
Supplement: 12885_2022_9989_MOESM1_ESM.xlsx › Supplementary_table_1

DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis.

Akinboboye O et al.

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

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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."