Alpha-1 Antitrypsin Mutations: Is One Too Many?

In non-Hispanic whites, highly significant additive effects were observed for several lung function and emphysema outcomes.

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This study illustrates the difficulty in analyzing rare genetic variants: Although there may be significant associations when considered in aggregate (i.e., gene-based burden testing), there are often too few individuals with each variant to test individually with sufficient power.

also in 13,097 other papers