Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G142Splc
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RYR1

NM_000540.3:p.G142Splc

Associated Papers

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.

Sarkozy A et al.

Neurology, 2023

Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.

Wang Y et al.

Scientific Reports, 2016

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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."