Long-read sequencing identified a novel nonsense and a de novo missense of PPA2 in trans in a Chinese patient with autosomal recessive infantile sudden cardiac failure

Publication date: Available online 5 April 2021Source: Clinica Chimica ActaAuthor(s): Arman Zhao, Jie Shen, Yueyue Ding, Mao Sheng, Mengying Zuo, Haitao Lv, Jian Wang, Yiping Shen, Hongying Wang, Ling Sun
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research