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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR1

Variant:p.H2498Y

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RYR1

NM_000540.3:p.H2498Y

hg38:chr19:38500868 C>T

Associated Papers

Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.

Curran JL et al.

British Journal of Anaesthesia, 1999

10618932 (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."