Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.S388L
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RYR1

NM_000540.3:p.S388L

Associated Papers

An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene.

Zhang H et al.

Stem Cell Research, 2020

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Rubegni A et al.

Neurology. Genetics, 2019

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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."