Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.R54S
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TTR

NM_000371.4:p.R54S

Associated Papers

A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Chu X et al.

Annals 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

Seven factors predict a delayed diagnosis of cardiac amyloidosis.

Bishop E et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2018

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf
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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."