Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.T80I
Back to variants list

TTR

NM_000371.4:p.T80I

Associated Papers

Development of a comprehensive cardiovascular disease genetic risk assessment test.

Amendola LM et al.

Genetics in Medicine Open, 2026

Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare.

Avery C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Singh A et al.

Journal of Clinical Medicine, 2025

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

Bhatt K et al.

Journal of the American Heart Association, 2024

Development of a comprehensive cardiovascular disease genetic risk assessment test.

Amendola LM et al.

Medrxiv : the Preprint Server for Health Sciences, 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

Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers of TTR V142I with Heart Failure and/or Arrhythmia.

Kaniper S et al.

Journal of Personalized Medicine, 2024

An additive destabilising effect of compound T60I and V122I substitutions in ATTRv amyloidosis.

Prokaeva T et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023

Prevalence estimation of ATTRv in China based on genetic databases.

Yongsheng Z et al.

Frontiers in Genetics, 2023

37124609 (PubMed )
Supplement: DataSheet1.PDF

Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.

Borgio JF

Archives of Medical Science : Ams, 2023

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

Patel JK et al.

Neurology and Therapy, 2022

Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis.

Chaudhary AG et al.

Cjc Open, 2022

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.

Abouelhoda M et al.

Human Genomics, 2021

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."