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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.M485insFs

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RYR1

NM_000540.3:p.M485insFs

hg38:chr19:38455248 T>TG

Associated Papers

Over-Representation of TTN Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy.

Di Feo MF et al.

European Journal of Neurology, 2026

41700839 (PubMed )

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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."