Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.E30_Q31insGCA
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RYR1

NM_000540.3:p.E30_Q31insGCA

Associated Papers

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Juntas Morales R et al.

Genes, 2021

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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."