https://dabrafenibinhibitor.co....m/benchmarking-ortho
Recurrent mutations, including c.5AG, p.D2G; c.1367CT, p.S456L; c.1535GA, p.R512Q and c.1846_1847del, p. Y616Lfs*6 of RARS1 gene, which encodes two types of peoples cytoplasmic arginyl-tRNA synthetase (hArgRS), are associated with Pelizaeus-Merzbacher-like disease (PMLD) with uncertain pathogenesis. Among these mutations, c.5AG is one of thoroughly reported mutation, resulting in a p.D2G mutation in the N-terminal expansion associated with long-form hArgRS. Right here, w
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