Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.V2168L
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RYR1

NM_000540.3:p.V2168L

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

The UK10K project identifies rare variants in health and disease.

Walter K et al.

Nature, 2015

26367797 (PubMed )
Supplement: 41586_2015_BFnature14962_MOESM15_ESM.xlsx › 15
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