Varaico: Literature-Extracted Genetic Variants

Gene:TOGARAM1
Variant:p.S1083*
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TOGARAM1

NM_001308120.2:p.S1083*

Associated Papers

Togaram1 is expressed in the neural tube and its absence causes neural tube closure defects.

Wang Y et al.

Hgg Advances, 2025

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Latour BL et al.

The Journal of Clinical Investigation, 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."