Associated Papers
Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.
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Hgg Advances, 2025
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Supplement: mmc2.xlsx › Table_S1
Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.
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Life Science Alliance, 2023
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