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