Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review

Publication date: Available online 30 May 2020Source: Clinica Chimica ActaAuthor(s): Yilun Tao, Dong Han, Xiyuan Li, Lihong Wang, Lili Yue, Chenggang Huang, Dandan Lu, Xiaoze Li
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research