Varaico: Literature-Extracted Genetic Variants

Gene:PSMD11
Variant:p.R90*
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PSMD11

NM_002815.4:p.R90*

Associated Papers

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Küry S et al.

Nature Communications, 2025

41298377 (PubMed )
Supplement: 41467_2025_65556_MOESM10_ESM.pdf

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

Deb W et al.

American Journal of Human Genetics, 2024

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Küry S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."