Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V50A
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TTR

NM_000371.4:p.V50A

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

Unraveling gut microbiome alterations and metabolic signatures in hereditary transthyretin amyloidosis.

Li H et al.

Microbiology Spectrum, 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

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.

Abouelhoda M et al.

Human Genomics, 2021

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

A rare variant of transthyretin-related amyloidosis associated with exclusive cardiomyopathy in a Hong Kong Chinese patient.

Wong CW et al.

Journal of Cardiology Cases, 2018

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

Hereditary Transthyretin Amyloidosis in Eight Chinese Families.

Meng LC et al.

Chinese Medical Journal, 2015

Electron microscopy in patients with clinically suspected of cardiac amyloidosis who underwent endomyocardial biopsy and negative Congo red staining.

Cheng Z et al.

International Journal of Cardiology, 2013

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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."