Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia
利用新生儿期携带者的代谢异常来评估甲基丙二酸血症中意义未明变异的致病性
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1403913
Xiao, Dongfan; Shi, Congcong; Zhang, Yinchun; Li, Sitao; Ye, Yuhao; Yuan, Guilong; Miu, Taohan; Ma, Haiyan; Diao, Shiguang; Su, Chaoyun; Li, Zhitao; Li, Haiyan; Zhuang, Guiying; Wang, Yuanli; Lu, Feiyan; Gu, Xia; Zhou, Wei; Xiao, Xin; Huang, Weiben; Wei, Tao; Hao, Hu