Varaico: Literature-Extracted Genetic Variants

Gene:RYR3
Variant:p.K2857E
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RYR3

NM_001036.6:p.K2857E

Associated Papers

Cryo-EM investigation of ryanodine receptor type 3.

Chen YS et al.

Nature Communications, 2024

39366997 (PubMed )
Supplement: 41467_2024_52998_MOESM1_ESM.pdf

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Farwell Hagman KD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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