Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.F64I
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TTR

NM_000371.4:p.F64I

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

Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.

Gentile L et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.

Beauvais D et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2024

Prevalence of transthyretin-related amyloidosis in Tuscany: Data from the regional population-based registry.

Cappelli F et al.

International Journal of Cardiology, 2023

Recipe for Success in Transthyretin Cardiomyopathy: Monoclonal Protein Rule Out, SPECT Imaging, and Genetic Testing.

Alexander KM et al.

Jacc. Cardiovascular Imaging, 2021

TTRMDB: A database for structural and functional analysis on the impact of SNPs over transthyretin (TTR) using bioinformatic tools.

Srinivasan E et al.

Computational Biology and Chemistry, 2020

Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration.

Ibrahim RB et al.

Cellular and Molecular Life Sciences : Cmls, 2020

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

Novel methods for detecting amyloidogenic proteins in transthyretin related amyloidosis.

Ando Y et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

A new ATTR Phe64Ile mutation with late-onset multiorgan involvement.

Tarquini R et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2007

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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."