Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.F84S
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TTR

NM_000371.4:p.F84S

Associated Papers

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

Hamoudi L et al.

Journal Francais D'ophtalmologie, 2025

A Rare Unusually Aggressive Form of Hereditary Transthyretin Amyloidosis.

Zhang J et al.

Jacc. Case 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

Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis.

Sekijima Y 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

Depressive symptoms delayed but subsequently led to the diagnosis of transthyretin amyloidosis: a case report.

Knezevic V et al.

The Journal of International Medical Research, 2025

Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.

Yu TP et al.

Acta Cardiologica, 2024

Amyloid detection and typing yield of skin biopsy in systemic amyloidosis and polyneuropathy.

Pinton S et al.

Annals of Clinical and Translational Neurology, 2023

Distribution and progression of cerebral amyloid angiopathy in early-onset V30M (p.V50M) hereditary ATTR amyloidosis.

Takahashi Y et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2023

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

He X et al.

Orphanet Journal of Rare Diseases, 2022

CSF/plasma levels, transthyretin stabilisation and safety of multiple doses of tolcapone in subjects with hereditary ATTR amyloidosis.

Takahashi Y et al.

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

A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant.

Yan XR et al.

Translational Neuroscience, 2022

Surgically treated intradural spinal manifestation of hereditary amyloidogenic transthyretin amyloidosis - A case report and scoping review of the literature.

Voglis S et al.

Brain & Spine, 2022

Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations.

Qin Q et al.

The Neurologist, 2021

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.

Du K et al.

Annals of Clinical and Translational Neurology, 2021

The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.

Fan K et al.

Journal of 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

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."