Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E81K
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TTR

NM_000371.4:p.E81K

Associated Papers

Genetic landscape of hereditary cardiomyopathies and arrhythmias in China.

Lu Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 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

Etiologic Diagnosis of Neuropathies Based on First-Line Screening of TTR Gene Mutations.

Magot A et al.

Journal of the Peripheral Nervous System : Jpns, 2025

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals of Neurology, 2025

Determinants of transthyretin levels and their association with adverse clinical outcomes among UK Biobank participants.

Shetty NS et al.

Nature Communications, 2024

39043640 (PubMed )
Supplement: 41467_2024_50231_MOESM2_ESM.pdf

Performance of 99mTc-PYP scintigraphy in the diagnosis of hereditary transthyretin cardiac amyloidosis.

Guo H et al.

Annals of Nuclear Medicine, 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

RNA interference in late-stage hereditary transthyretin amyloidosis: a clinicopathological study.

Beck G et al.

Journal of Neurology, 2023

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

Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan.

Matsushima M et al.

Internal Medicine (tokyo, Japan), 2023

Prevalence estimation of ATTRv in China based on genetic databases.

Yongsheng Z et al.

Frontiers in Genetics, 2023

Clinical Profile and Prognosis of Hereditary Transthyretin Amyloid Cardiomyopathy: A Single-Center Study in South China.

Wang S et al.

Frontiers in Cardiovascular Medicine, 2022

Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation.

Chu X et al.

Frontiers in Molecular Neuroscience, 2022

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation.

Lipowska M et al.

Neurologia I Neurochirurgia Polska, 2020

Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas.

Thimm A et al.

Neurological Research and Practice, 2019

Clinical and pathological findings in familial amyloid polyneuropathy caused by a transthyretin E61K mutation.

Murakami T et al.

Journal of the Neurological Sciences, 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

First report of a rare mutation in a Polish patient with painful late-onset transthyretin amyloidosis.

Hagenacker T et al.

Journal of the Neurological Sciences, 2014

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