Varaico: Literature-Extracted Genetic Variants

Gene:COMMD4
Variant:p.L41R
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COMMD4

NM_017828.5:p.L41R

Associated Papers

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

Kato K et al.

Science Translational Medicine, 2025

Impairment of DET1 causes neurological defects and lethality in mice and humans.

Karayel O et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."