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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.N2342I

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RYR1

NM_000540.3:p.N2342I

hg38:chr19:38499241 A>T

Associated Papers

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

Segarra-Casas A et al.

European Journal of Neurology, 2025

39742415 (PubMed )

Supplement: ENE-32-e16471-s001.docx

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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."