Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E74K
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TTR

NM_000371.4:p.E74K

Associated Papers

Relationship between amyloid choroidopathy and neurological involvement severity scores in transthyretin amyloidosis.

Hamoudi L et al.

Journal Francais D'ophtalmologie, 2025

Pathogenic FANCC Variants Are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family.

Danbaki AS et al.

Current Issues in Molecular Biology, 2025

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

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

Senem I et al.

Journal of Neurology, 2025

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

Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.

He X et al.

Orphanet Journal of Rare Diseases, 2022

The Journey of Human Transthyretin: Synthesis, Structure Stability, and Catabolism.

Sanguinetti C et al.

Biomedicines, 2022

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Hathaway J et al.

Bmc Cardiovascular Disorders, 2021

33673806 (PubMed )
Supplement: 12872_2021_1927_MOESM2_ESM.xlsx › Sheet1

Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.

Rowczenio D et al.

Human Mutation, 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

Safety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis.

Sekijima Y et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2015

Ophthalmological manifestations of hereditary transthyretin amyloidosis.

Gondim FAA et al.

Arquivos Brasileiros De Oftalmologia, 0

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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."