Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.N2250I
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RYR2

NM_001035.3:p.N2250I

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

Endometrioid endometrial cancer "recurring" as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?

Jiang W et al.

Hereditary Cancer in Clinical Practice, 2019

31139268 (PubMed )
Supplement: 13053_2019_112_MOESM1_ESM.xlsx › gxj-s1-blood
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