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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.
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.
Molina-Ramírez LP, Burkitt-Wright EM, Saeed H, McDermott JH, Kyle C, Wright R, Campbell C, Bhaskar SS, Taylor A, Dutton L, Forde C, Metcalfe K, Smith A, Clayton-Smith J, Douzgou S, Chandler K, Briggs TA, Banka S, Newman WG, Gokhale D, Bruce IA, Black GC.
Molina-Ramírez LP, et al.
Clin Otolaryngol. 2021 Nov;46(6):1257-1262. doi: 10.1111/coa.13826. Epub 2021 Jul 5.
Clin Otolaryngol. 2021.
PMID: 34171171
No abstract available.
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