de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.

Sci Rep · 2019 · PMC6715695 · PMID 31467394

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highly significantno p-value reported

In addition, constraint metrices from ExAC and gnomAD for MYO1G indicated this gene to be tolerant to missense variants, while MEPCE is highly intolerant to loss-of-function variation, with a pLI score of 1 and a highly significant observed/expected score for protein-truncating variants of 0.04 23 .

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