Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.E74G
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TTR

NM_000371.4:p.E74G

Associated Papers

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

Hamoudi L et al.

Journal Francais D'ophtalmologie, 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

Early cardiovascular autonomic failure in ATTRv predicts poor prognosis and may respond to disease-modifying therapy.

Sander L et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025

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

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

Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review.

Aldinc E et al.

Bmc Musculoskeletal Disorders, 2023

A narrative review and expert recommendations on the assessment of the clinical manifestations, follow-up, and management of post-OLT patients with ATTRv amyloidosis.

Casasnovas C et al.

Therapeutic Advances in Neurological Disorders, 2023

Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage.

Shen J et al.

Frontiers in Genetics, 2022

Different phenotypes of transthyretin-associated familial amyloid polyneuropathy due to a mutation in p.Glu109Gln in members of the same family.

Erdogan C et al.

Northern Clinics of Istanbul, 2021

Transthyretin amyloidosis: Putting myopathy on the map.

Pinto MV et al.

Muscle & Nerve, 2020

Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series.

Waddington-Cruz M et al.

Orphanet Journal of Rare Diseases, 2019

30736835 (PubMed )
Supplement: 13023_2019_1000_MOESM1_ESM.docx

Hereditary transthyretin-related amyloidosis.

Finsterer J et al.

Acta Neurologica Scandinavica, 2019

Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation.

Matsushima M et al.

Internal Medicine (tokyo, Japan), 2017

Acquired transthyretin amyloidosis after domino liver transplant: Phenotypic correlation, implication of liver retransplantation.

Muchtar E 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

A woman with a rare p.Glu74Gly transthyretin mutation presenting exclusively with a rapidly progressive neuropathy: a case report.

Schänzer A et al.

Journal of Medical Case Reports, 2014

[Transthyretin Arg-83 mutation in vitreous amyloidosis].

Chen L et al.

Yan Ke Xue Bao = Eye Science, 2008

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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."