A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation
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DOI: 10.1111/cge.14771
Abstract: TAF1C (TATA box‐binding protein‐associated factor, RNA polymerase I subunit C) is an essential component of the RNA polymerase I transcription machinery responsible for ribosomal RNA synthesis and nucleolar function. Variants in TAF1C have recently emerged… read more here.
Keywords: taf1c; nucleolar localization; missense variant; variant causes ... See more keywords