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Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling.
Physiol Rep. 2022 Apr;10(8):e15265. doi: 10.14814/phy2.15265.
Physiol Rep. 2022.
PMID: 35439358
Free PMC article.
Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships.
Olubando D, Hopton C, Eden J, Caswell R, Lowri Thomas N, Roberts SA, Morris-Rosendahl D, Venetucci L, Newman WG.
Olubando D, et al. Among authors: hopton c.
J Hum Genet. 2020 Jun;65(6):531-539. doi: 10.1038/s10038-020-0738-6. Epub 2020 Mar 10.
J Hum Genet. 2020.
PMID: 32152366
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