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  1. 1
    P757: Clinical utility of the 2021 ACMG gene tiers in expanded carrier screening*

    P757: Clinical utility of the 2021 ACMG gene tiers in expanded carrier screening* by Dana Neitzel, Sarah Poll, Sienna Aguilar, Nicole Faulkner, Swaroop Aradhya

    Published 2024-01-01
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  2. 2
    The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication: A multiyear case series

    The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication: A multiyear case series by Angela M. Trepanier, Sienna Aguilar, John Kamholz, Jeremy J. Laukka

    Published 2023-09-01
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    Article

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