Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.P2488fs
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RYR1

NM_000540.3:p.P2488fs

Associated Papers

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Abath Neto O et al.

Neuromuscular Disorders : Nmd, 2017

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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."