Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G1097G
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RYR1

NM_000540.3:p.G1097G

Associated Papers

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Marchant RG et al.

Annals of Clinical and Translational Neurology, 2024

38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1

[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence].

Del Arco-Guzmán N et al.

Revista De Neurologia, 2024

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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."