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. 2020 Jul 31;107(2):311–324. doi: 10.1016/j.ajhg.2020.06.016

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Protein Levels of AsnRS1 Are Reduced in Individual-Derived Cells

(A) RT-PCR of the de novo c.1600C>T (p.Arg534^∗) variant in P2 and parents (B) western blotting and (C) quantification graph of individuals with NARS1 mutations compared with controls. Ctrl = control, P10 = homozygous c.1633C>T (p.Arg545Cys), P26 = homozygous c.50C>T (p.Thr17Met), P29 = compound heterozygous (c.1067A>C (p.Asp356Ala) and c.203dupA (p.Met69Aspfs^∗4) (F denotes father of individuals), P24 = homozygous c.32G>C (p.Arg11Pro).