Novel Biallelic Variant in the <i>BRAT1</i> Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.

Front Genet · 2022 · PMC8960271 · PMID 35360849

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showed a trendno p-value reported

BRAT1 expression levels in RNA-seq showed a trend toward lower expression in heterozygous parents and the compound heterozygous proband and confirmed significantly decreased BRAT1 transcript levels in the presence of the variant ( Figure 2C ), consistent with NMD of the mutant transcript.

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