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Amyloidogenicity assessment of transthyretin gene variants

OBJECTIVE: Hereditary transthyretin‐mediated amyloidosis is a treatable condition caused by amyloidogenic variants in the transthyretin‐gene resulting in severe peripheral neuropathy or cardiomyopathy. Only about a third of over 130 known variants are clearly pathogenic, most are classified as varia...

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Detalles Bibliográficos
Autores principales:	Grether, Nicolai B., Napravnik, Felix, Imhof, Thomas, Linke, Reinhold P., Bräsen, Jan H., Schmitz, Jessica, Dohrn, Maike, Schneider, Christian, Svačina, Martin K. R., Stetefeld, Jörg, Koch, Manuel, Lehmann, Helmar C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380149/ https://www.ncbi.nlm.nih.gov/pubmed/35903975 http://dx.doi.org/10.1002/acn3.51626

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