EXOSC3 G191 RNA

概括

致病性EXOSC3变异导致1B型 (PCH1B) 的点脑小贝低成形. 这项研究揭示了EXOSC3 G191变种如何破坏RNA外基因组的稳定性,影响基因表达并促进疾病变异性.

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