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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.H2204H

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RYR1

NM_000540.3:p.H2204H

hg38:chr19:38496278 C>T

Associated Papers

Idiopathic hyperCKemia and malignant hyperthermia susceptibility.

Santos JM et al.

Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2017

28952030 (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."