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    Functional and Structural Characterization of Mechanosensitive Piezo1 Channel in Disease by Sophia Liu (722004)

    Published 2025
    “…. < 0.5), and in-silico mutagenesis revealed that several variants caused cavity alterations, hydrogen bond or salt bridge disruptions, and buried-to-exposed transitions. However, most algorithms struggled to distinguish gain-of-function (GoF) from loss-of-function (LoF) variants, with GoF variants showing lower pathogenicity scores despite clinical relevance.…”