Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.D167N
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RYR1

NM_000540.3:p.D167N

Associated Papers

Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface.

Kimlicka L et al.

Nature Communications, 2013

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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."