Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R2401Q
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RYR1

NM_000540.3:p.R2401Q

Associated Papers

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Walsh R et al.

Journal of Medical Genetics, 2014

24136861 (PubMed )
Supplement: jmedgenet-2013-101917-s1.pdf
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