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    Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV

    Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease... by Chie Naito, Karis Kosar, Eriko Kishimoto, Loren Pena, Yilun Huang, Kaili Hao, Anas Bernieh, Jennifer Kasten, Chet Villa, Priya Kishnani, Bali Deeksha, Mingxia Gu, Akihiro Asai

    Published 2024-06-01
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