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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR2

Variant:p.F4236V

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RYR2

NM_001035.3:p.F4236V

hg38:chr1:237784418 T>G

Associated Papers

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Liu J et al.

Journal of Clinical Laboratory Analysis, 2020

32529721 (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."