Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.F4917L
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RYR1

NM_000540.3:p.F4917L

Associated Papers

Dual role of the S5 segment in type 1 ryanodine receptor channel gating.

Murayama T et al.

Communications Biology, 2024

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.

Sarkozy A et al.

Neurology, 2023

Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

Maggi L et al.

Neuromuscular Disorders : Nmd, 2013

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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."