Evolving knowledge of “red flag” clinical features associated with TTRp.(Val142Ile) in a diverse electronic health record-linked biobank
| Autor: | Kontorovich, Amy R., Benson, Connor B., McClellan, Alexandra, Belbin, Gillian M., Kenny, Eimear E., Abul-Husn, Noura S. |
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| Zdroj: | Genetics in Medicine; 20240101, Issue: Preprints |
| Abstrakt: | Previous studies have established “red flags” that raise clinical suspicion for the hereditary form of transthyretin amyloidosis (ATTRv). However, these have not been specifically evaluated for the most common associated variant, TTRp.(Val142Ile). |
| Databáze: | Supplemental Index |
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