Varaico: Literature-Extracted Genetic Variants

Gene:THOC6
Variant:p.P6fs
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THOC6

NM_024339.5:p.P6fs

Associated Papers

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

Werren EA et al.

Nature Communications, 2024

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.

Werren E et al.

Research Square, 2023

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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."