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- W4309403808 abstract "POLR3A is a main subunit encoding RNA polymerase III, which is involved in transcription of many RNA structures. Here, we report a new presentation of c.1771-6C > G intronic variant presenting as developmental regression, seizure, and dystonia in a 6-year-old boy associated with striatum involvement in the brain MRI." @default.
- W4309403808 created "2022-11-26" @default.
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- W4309403808 date "2022-11-01" @default.
- W4309403808 modified "2023-10-18" @default.
- W4309403808 title "Developmental regression and movement disorder as a phenotypic variant of <scp>POLR3A</scp> Mutation—Case report" @default.
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- W4309403808 doi "https://doi.org/10.1002/ccr3.6556" @default.
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