Medical Mycology, Peking University, Beijing Key Laboratory of Molecular Diagnosis of Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China, Email: mycolab@126.com; Liu Zhengyin, Department of Infection Disease, Peking Union Medical College Hospital, ...
对于其他变异 ,包括已被 ClinVar数 据库中收录但不太常见的变异,须参照 美国医 学遗传学和基因组学学会 (AmericanCollege ofMedicalGeneticsandGenomics,ACMG)[50G51]和英 国临床 分子遗传学协会 (Clinical MolecularGenetics Society,ACGS)的变异致病性评估指南进行系统评估 ,必要时可通过体外功能实验验证变异对 21 ...