Moreover, the ATF6 c.82+5G > T mutation led to intron retention (Kohl et al., 2015), while ASS1 mutations c.773+4A > C and c.970+5G > A were identified in patients with citrullinemia (Kobayashi et al., 1995; Lin et al., 2019). The gene discussed is ASS1; the disease is citrullinemia.