DongYing Tao HuiQin Zhang Jingmin Yang HuanHong Niu JingJing Zhang Minghua Zeng ShengQuan Cheng
10.3389/fped.2022.825515
Front Pediatr
2022 Apr 28;10:825515.
pc gene c1825+5g>a pathogenic variant pyruvate carboxylase deficiency splice-site variant
CC BY
https://pubmed.ncbi.nlm.nih.gov/35573952/
Case Reports
PMC9096210
35573952
PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report
2022