Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility
更新了 RYR1 相关恶性高热易感性 251 个变异的变异注释专家组标准和致病性分类
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddac145
Johnston, Jennifer J; Dirksen, Robert T; Girard, Thierry; Hopkins, Phil M; Kraeva, Natalia; Ognoon, Mungunsukh; Radenbaugh, K Bailey; Riazi, Sheila; Robinson, Rachel L; Saddic Iii, Louis A; Sambuughin, Nyamkhishig; Saxena, Richa; Shepherd, Sarah; Stowell, Kathryn; Weber, James; Yoo, Seeley; Rosenberg, Henry; Biesecker, Leslie G