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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2
Alzheimer’s disease (AD) is a neurodegenerative disease that is clinically characterized by progressive cognitive decline. More than 200 pathogenic mutations have been identified in amyloid-β precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2). Additionally, common and rare varian...
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| Опубликовано в: : | Neurobiol Dis |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7236786/ https://ncbi.nlm.nih.gov/pubmed/32087291 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2020.104817 |
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