Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.Q578P
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RYR1

NM_000540.3:p.Q578P

Associated Papers

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Chong JX et al.

American Journal of Human Genetics, 2015

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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."