Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.F4924del1
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RYR1

NM_000540.3:p.F4924del1

Associated Papers

Congenital myopathies in adults: A diagnosis not to overlook.

Pinto MJ et al.

Acta Neurologica Scandinavica, 2022

Single-channel properties of skeletal muscle ryanodine receptor pore Δ4923FF4924 in two brothers with a lethal form of fetal akinesia.

Xu L et al.

Cell Calcium, 2020

RYR1-related myopathies: a wide spectrum of phenotypes throughout life.

Snoeck M et al.

European Journal of Neurology, 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."