Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.H581_I582insFs
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RYR1

NM_000540.3:p.H581_I582insFs

Associated Papers

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Monnier N et al.

Human Mutation, 2008

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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."