1. Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
    Wei-Xia Lin et al, 2016, Scientific Reports CrossRef
  2. Bioinformatic and functional analysis of promoter region of human SLC25A13 gene
    Jun-Lin Chen et al, 2019, Gene CrossRef
  3. Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency
    Kena Wang et al, 2023, Frontiers in Pediatrics CrossRef
  4. In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13
    Nike Kwai Cheung Lau et al, 2021, Pathology CrossRef
  5. Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele
    Zhan-Hui Zhang et al, 2017, Oncotarget CrossRef