Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R3366C
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RYR1

NM_000540.3:p.R3366C

Associated Papers

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Garibaldi M et al.

Acta Neuropathologica Communications, 2019

30611313 (PubMed )
Supplement: 40478_2018_655_MOESM1_ESM.xlsx › Feuil4

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D et al.

Journal of Neuromuscular Diseases, 2019

31127727 (PubMed )
Supplement: sj-xlsx-2-jnd-10.3233_jnd-180376.xlsx › Blad1
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