Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.F1091L
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RYR1

NM_000540.3:p.F1091L

Associated Papers

Neuromuscular and systemic presentations in adults: diagnoses beyond MERRF and MELAS.

Cohen BH

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2013

[A case of MELAS with G13513A mutation presenting with chronic kidney disease long before stroke-like episodes].

Motoda A et al.

Rinsho Shinkeigaku = Clinical Neurology, 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."