Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.A2421S
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RYR1

NM_000540.3:p.A2421S

Associated Papers

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.

Barbosa-Gouveia S et al.

Journal of Clinical Medicine, 2022

35628876 (PubMed )
Supplement: jcm-11-02750-s001.zip › jcm-1640664-supplementary.pdf

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM4_ESM.xlsx › Novel_Previously_described_var.
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