Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.

Sci Rep · 2024 · PMC10985069 · PMID 38561452

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an overall trendno p-value reported

Although the levels of the transcriptional regulator 7SK RNA after the p.Cys767Phe mutation were not significantly different from those of the wild type group, there was an overall trend of increased levels of 7SK RNA compared to the control group.

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