Varaico: Literature-Extracted Genetic Variants

Gene:THOC6
Variant:p.W222R
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THOC6

NM_024339.5:p.W222R

Associated Papers

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

Werren E et al.

Research Square, 2023

The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant.

Zhang Q et al.

Medicine, 2020

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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."