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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RYR2

Variant:p.D4956A

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RYR2

NM_001035.3:p.D4956A

hg38:chr1:237832610 A>C

Associated Papers

RyR2 disease mutations at the C-terminal domain intersubunit interface alter closed-state stability and channel activation.

Guo W et al.

The Journal of Biological Chemistry, 2021

34022226 (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."