Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.T69A
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TTR

NM_000371.4:p.T69A

Associated Papers

[18F]florbetapir PET for early detection of amyloidosis in patients with hereditary transthyretin amyloidosis polyneuropathy.

Kong Y et al.

Genes & Diseases, 2026

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

NfL as a biomarker in ATTRv amyloidosis: potential and limitations.

Russo M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals of Neurology, 2025

Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.

Senem I et al.

Journal of Neurology, 2025

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

A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Gentile L et al.

Orphanet Journal of Rare Diseases, 2023

37946256 (PubMed )
Supplement: 13023_2023_2962_MOESM1_ESM.docx

Prevalence estimation of ATTRv in China based on genetic databases.

Yongsheng Z et al.

Frontiers in Genetics, 2023

37124609 (PubMed )
Supplement: DataSheet1.PDF

Prognosis of Transthyretin Cardiac Amyloidosis Without Heart Failure Symptoms.

Gonzalez-Lopez E et al.

Jacc. Cardiooncology, 2022

Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.

Dugo K et al.

Biomedicines, 2022

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.

Dispenzieri A et al.

Orphanet Journal of Rare Diseases, 2022

35717381 (PubMed )
Supplement: 13023_2022_2359_MOESM1_ESM.docx

Management of transthyretin amyloidosis.

Condoluci A et al.

Swiss Medical Weekly, 2021

Use of Drugs for ATTRv Amyloidosis in the Real World: How Therapy Is Changing Survival in a Non-Endemic Area.

Russo M et al.

Brain Sciences, 2021

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.

Iorio A et al.

European Journal of Human Genetics : Ejhg, 2017

Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy.

Cortese A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

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

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds.

Liu G et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Left Atrial Morphology, Size and Function in Patients With Transthyretin Cardiac Amyloidosis and Primary Hypertrophic Cardiomyopathy - Comparative Strain Imaging Study.

de Gregorio C et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2016

Ophthalmological manifestations of hereditary transthyretin amyloidosis.

Gondim FAA et al.

Arquivos Brasileiros De Oftalmologia, 0

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