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Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.
Déri S, Borbás J, Hartai T, Hategan L, Csányi B, Visnyovszki Á, Madácsy T, Maléth J, Hegedűs Z, Nagy I, Arora R, Labro AJ, Környei L, Varró A, Sepp R, Ördög B. Déri S, et al. Cardiovasc Res. 2021 Jul 7;117(8):1923-1934. doi: 10.1093/cvr/cvaa249. Cardiovasc Res. 2021. PMID: 32810216