Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.R2359W
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RYR1

NM_000540.3:p.R2359W

Associated Papers

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

A highly heterogeneous mutational pattern in POEMS syndrome.

Chen J et al.

Leukemia, 2021

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