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

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Reduced Asparaginyl-tRNA Synthetase Activity in Individuals with Homozygous NARS1 Variants

c.1600C>T (p.Arg534^∗) (P2), c.1633C>T (p.Arg545Cys) (P9 and P20), c.32G>C (p.Arg11Pro) (P24), c.50C>T (p.Thr17Met) (P26), and c.1067A>C (p.Asp356Ala)/c.203dupA (p.M69Aspfs^∗4) (P29) NARS1 variants in comparison to the average of three unrelated fibroblast cell lines. (All cell lines are fibroblast except P2, which is a lymphoblast cell line. Control values for lymphoblast are similar to fibroblasts.) n = 9, p value FDR < 0.01.