Associated Papers
Hereditary cardiac amyloidosis associated with a rare p.Ala101Val transthyretin mutation: a case description.
Yuan S et al.
Quantitative Imaging in Medicine and Surgery, 2025
A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy.
Pyankov IA et al.
Journal of Structural Biology, 2025
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.
Lahuerta Pueyo C et al.
European Journal of Human Genetics : Ejhg, 2019
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