Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R2508_V2509delFs
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RYR1

NM_000540.3:p.R2508_V2509delFs

Associated Papers

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Todd EJ et al.

Orphanet Journal of Rare Diseases, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."