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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR2

Variant:p.R169*

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RYR2

NM_001035.3:p.R169*

hg38:chr1:237377364 C>T

Associated Papers

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

Martinez-Barrios E et al.

International Journal of Legal Medicine, 2023

36693943 (PubMed )

Supplement: 414_2023_2951_MOESM1_ESM.pdf

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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."