Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency
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Background: Pontocerebellar hypoplasia type 6 (PCH6) is caused by biallelic pathogenic variants in RARS2, encoding mitochondrial arginyl-tRNA synthetase. Although mitochondrial dysfunction is a recognised feature, how RARS2 defic... ...
