Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.I93V
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TTR

NM_000371.4:p.I93V

Associated Papers

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

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals 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

2023 Expert Consensus of the Taiwan Society of Cardiology on the Diagnosis and Treatment of Cardiac Amyloidosis.

Wang CC et al.

Acta Cardiologica Sinica, 2023

A natural history analysis of asymptomatic TTR gene carriers as they develop symptomatic transthyretin amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Coelho T et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022

Utility and pitfalls of the electrocardiogram in the evaluation of cardiac amyloidosis.

Ng PLF et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2022

Primary Cardiac Involvement in the Rare Transthyretin Ile73Val Mutation: A Case Series.

Kumar P et al.

Circulation. Genomic and Precision Medicine, 2020

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

Lipowska M et al.

Neurologia I Neurochirurgia Polska, 2020

Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan.

Chao HC et al.

Annals of Clinical and Translational Neurology, 2019

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
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