The Molecular Biology Society of Japan

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[1AW-14-6] Genotype-Structure-Phenotype: what makes ATP1A3 mutations different

〇Kathleen J Sweadner1, Elena Arystarkhova1, Laurie J Ozelius1, John T Penniston1, Allison Brashear2 (1.Massachusetts General Hospital, Harvard Medical School, 2.Wake Forest University Medical School)

genetic variant, channelopathy, pathogenicity prediction, protein misfolding, protein structure

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