Varaico: Literature-Extracted Genetic Variants

Gene:PSMC5
Variant:p.R258W
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PSMC5

NM_002805.6:p.R258W

Associated Papers

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

Küry S et al.

Nature Communications, 2025

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

De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.

Chen S et al.

Molecular Autism, 2020

33032641 (PubMed )
Supplement: 13229_2020_386_MOESM2_ESM.xlsx › Interaction_disruptions_proband

Genetics of proteasome diseases.

Gomes AV

Scientifica, 2013

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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."