Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.M399V
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RYR2

NM_001035.3:p.M399V

Associated Papers

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf

Novel mutation in N-terminal fragment of ryanodine receptor 2 causing catecholaminergic polymorphic ventricular tachycardia.

Jiwani S et al.

Indian Pacing and Electrophysiology Journal, 0

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