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Discovery and validation of autosomal dominant Alzheimer's disease mutations.

Simon HsuBrian A GordonRuss HornbeckJoanne B NortonDenise LevitchAdia LoudenEllen ZiegemeierRobert LaforceJasmeer ChhatwalGregory S DayEric McDadeJohn C MorrisAnne M FaganTammie L S BenzingerAlison M GoateCarlos CruchagaRandall J Batemannull nullCeleste M Karch
Published in: Alzheimer's research & therapy (2018)
In defining a subset of these variants as pathogenic, individuals from these families can now be enrolled in observational and clinical trials. This study outlines a critical approach for translating genetic data into meaningful clinical outcomes.
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