Amyloidogenicity assessment of transthyretin gene variants
Abstract 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...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Wiley
2022-08-01
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| Saila: | Annals of Clinical and Translational Neurology |
| Sarrera elektronikoa: | https://doi.org/10.1002/acn3.51626 |
| Etiketak: |
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