[Elsevier] Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay

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This post will be closed automatically in 2026-09-22 11:29

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journal：Molecular Genetics and Metabolism

Authors：Shelly Goomber; Erin Huggins; Catherine W. Rehder; Gregory E. Crawford; Seung-Hye Jung; Jessica Doxey; Apoorva K. Iyengar; Erica B. Nading; Priya S. Kishnani; Deeksha S. Bali

Published date：2026-9-

DOI：10.1016/j.ymgme.2026.110237

PDF link：https://www.sciencedirect.com/sc ... 096719226005202/pdf

Article link：https://doi.org/10.1016/j.ymgme.2026.110237

Article Source：Elsevier BV。

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