Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.

Hum Genome Var · 2022 · PMC9010413 · PMID 35422034

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highly significantno p-value reported

The log-rank test indicated highly significant differences in mean lifespan between elav-GAL4 control flies (72 days) and flies expressing TOP1MT WT (44 days) or TOP1MT R111Q (37 days).

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