Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.I104T
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TTR

NM_000371.4:p.I104T

Associated Papers

Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags.

Siemer JM et al.

Scientific Reports, 2025

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

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

Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.

Rösner S et al.

Journal of Clinical 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

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.

Skrahina V et al.

Annals of Medicine, 2021

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.

Carr AS et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

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