Varaico: Literature-Extracted Genetic Variants

Gene:COMMD9
Variant:p.L70fs
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COMMD9

NM_014186.4:p.L70fs

Associated Papers

Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

Kato K et al.

Science Translational Medicine, 2025

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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."