Varaico: Literature-Extracted Genetic Variants

Gene:MEPCE
Variant:p.R518*
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MEPCE

NM_019606.6:p.R518*

Associated Papers

LARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis.

Kao TL et al.

Nature Communications, 2024

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

Schneeberger PE et al.

Scientific Reports, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."